531 results on '"Mei, Davide A"'
Search Results
2. RICTOR variants are associated with neurodevelopmental disorders
- Author
-
Carapito, Raphael, Molitor, Anne, Pavinato, Lisa, Skeyni, Alaa, Lambert, Magalie, Pichot, Angélique, Jiang, Jiuhong, Spinnhirny, Perrine, Zimmermann, Lucie, Boucher, Philippe, Chung, Clara W. T., Elserafy, Noha, Blair, Edward M., Li, Dong, Elisabeth, Bhoj, Kotzaeridou, Urania, Karch, Stephanie, Wagner, Matias, Lunsing, Roelineke J., Pfundt, Rolph, Boycott, Kym M., Bruel, Ange-Line, Mau-Them, Frédéric Tran, Moutton, Sébastien, Conti, Valerio, Mei, Davide, Cetica, Valentina, Guerrini, Renzo, Brunet, Theresa, Rump, Patrick, Mussa, Alessandro, Brusco, Alfredo, Lemire, Gabrielle, de Vries, Bert B. A., Miao, Zhichao, Isidor, Bertrand, and Bahram, Seiamak
- Published
- 2024
- Full Text
- View/download PDF
3. Efficacy of the ABC Pathway for Integrated Care Across Phenotypes of Patients with Atrial Fibrillation: A Latent-Class Analysis Report from the mAFA-II Clinical Trial
- Author
-
Corica, Bernadette, Romiti, Giulio Francesco, Mei, Davide Antonio, Proietti, Marco, Zhang, Hui, Guo, Yutao, and Lip, Gregory Y. H.
- Published
- 2024
- Full Text
- View/download PDF
4. Peripheral artery disease, antithrombotic treatment and outcomes in European and Asian patients with atrial fibrillation: analysis from two prospective observational registries
- Author
-
Mei, Davide Antonio, Romiti, Giulio Francesco, Bucci, Tommaso, Corica, Bernadette, Imberti, Jacopo Francesco, Bonini, Niccolò, Vitolo, Marco, Shantsila, Alena, Tse, Hung-Fat, Chao, Tze-Fan, Boriani, Giuseppe, Proietti, Marco, and Lip, Gregory Y. H.
- Published
- 2024
- Full Text
- View/download PDF
5. Patterns of comorbidities in patients with atrial fibrillation and impact on management and long-term prognosis: an analysis from the Prospective Global GLORIA-AF Registry
- Author
-
Romiti, Giulio Francesco, Corica, Bernadette, Mei, Davide Antonio, Bisson, Arnaud, Boriani, Giuseppe, Olshansky, Brian, Chao, Tze-Fan, Huisman, Menno V., Proietti, Marco, and Lip, Gregory Y. H.
- Published
- 2024
- Full Text
- View/download PDF
6. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy
- Author
-
Lenge, Matteo, Balestrini, Simona, Napolitano, Antonio, Mei, Davide, Conti, Valerio, Baldassarri, Giulia, Trivisano, Marina, Pellacani, Simona, Macconi, Letizia, Longo, Daniela, Rossi Espagnet, Maria Camilla, Cappelletti, Simona, D’Incerti, Ludovico, Barba, Carmen, Specchio, Nicola, and Guerrini, Renzo
- Published
- 2024
- Full Text
- View/download PDF
7. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
- Author
-
Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia, Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj, Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Koichihara, Reiko, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper, van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian, Guerrini, Renzo, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, and Argilli, Emanuela
- Subjects
abnormal myelination ,epilepsy ,epileptic encephalopathy ,hemolytic anemia ,infantile spasms ,ion channels ,leak cation currents ,osmotic stress ,white matter abnormality ,Humans ,Brain Diseases ,Ion Channels ,Brain ,Intellectual Disability ,Phenotype - Abstract
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited. Here, we describe 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes carrying ten distinct heterozygous variants of TMEM63B, encoding for a highly conserved stretch-activated ion channel. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense, including the recurrent p.Val44Met in 7/17 individuals, or in-frame, all affecting conserved residues located in transmembrane regions of the protein. In 12 individuals, hematological abnormalities co-occurred, such as macrocytosis and hemolysis, requiring blood transfusions in some. We modeled six variants (p.Val44Met, p.Arg433His, p.Thr481Asn, p.Gly580Ser, p.Arg660Thr, and p.Phe697Leu), each affecting a distinct transmembrane domain of the channel, in transfected Neuro2a cells and demonstrated inward leak cation currents across the mutated channel even in isotonic conditions, while the response to hypo-osmotic challenge was impaired, as were the Ca2+ transients generated under hypo-osmotic stimulation. Ectopic expression of the p.Val44Met and p.Gly580Cys variants in Drosophila resulted in early death. TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurological phenotype with progressive brain damage and early-onset epilepsy associated with hematological abnormalities in most individuals.
- Published
- 2023
8. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
- Author
-
Sabeh, Pascale, Dumas, Samantha A., Maios, Claudia, Daghar, Hiba, Korzeniowski, Marek, Rousseau, Justine, Lines, Matthew, Guerin, Andrea, Millichap, John J., Landsverk, Megan, Grebe, Theresa, Lindstrom, Kristin, Strober, Jonathan, Ait Mouhoub, Tarik, Zweier, Christiane, Steinraths, Michelle, Hebebrand, Moritz, Callewaert, Bert, Abou Jamra, Rami, Kautza-Lucht, Monika, Wegler, Meret, Kruszka, Paul, Kumps, Candy, Banne, Ehud, Waberski, Marta Biderman, Dieux, Anne, Raible, Sarah, Krantz, Ian, Medne, Livija, Pechter, Kieran, Villard, Laurent, Guerrini, Renzo, Bianchini, Claudia, Barba, Carmen, Mei, Davide, Blanc, Xavier, Kallay, Christine, Ranza, Emmanuelle, Yang, Xiao-Ru, O'Heir, Emily, Donald, Kirsten A., Murugasen, Serini, Bruwer, Zandre, Calikoglu, Muge, Mathews, Jennifer M., Lesieur-Sebellin, Marion, Baujat, Geneviève, Derive, Nicolas, Pierson, Tyler Mark, Murrell, Jill R., Shillington, Amelle, Ormieres, Clothilde, Rondeau, Sophie, Reis, André, Fernandez-Jaen, Alberto, Au, Ping Yee Billie, Sweetser, David A., Briere, Lauren C., Couque, Nathalie, Perrin, Laurence, Schymick, Jennifer, Gueguen, Paul, Lefebvre, Mathilde, Van Andel, Michael, Juusola, Jane, Antonarakis, Stylianos E., Parker, J. Alex, Burnett, Barrington G., and Campeau, Philippe M.
- Published
- 2025
- Full Text
- View/download PDF
9. Cardiac resynchronization therapy (CRT) nonresponders in the contemporary era: A state-of-the-art review
- Author
-
Gerra, Luigi, Bonini, Niccolò, Mei, Davide Antonio, Imberti, Jacopo Francesco, Vitolo, Marco, Bucci, Tommaso, Boriani, Giuseppe, and Lip, Gregory Y.H.
- Published
- 2025
- Full Text
- View/download PDF
10. Performance of HAS-BLED and DOAC scores to predict major bleeding events in atrial fibrillation patients treated with direct oral anticoagulants: A report from a prospective European observational registry
- Author
-
Mei, Davide Antonio, Imberti, Jacopo Francesco, Bonini, Niccolò, Romiti, Giulio Francesco, Corica, Bernadette, Proietti, Marco, Vitolo, Marco, Lip, Gregory Y.H., and Boriani, Giuseppe
- Published
- 2024
- Full Text
- View/download PDF
11. Clinical Outcomes in Metabolically Healthy and Unhealthy Obese and Overweight Patients With Atrial Fibrillation: Findings From the GLORIA-AF Registry
- Author
-
Corica, Bernadette, Romiti, Giulio Francesco, Proietti, Marco, Mei, Davide Antonio, Boriani, Giuseppe, Chao, Tze-Fan, Olshansky, Brian, Huisman, Menno V., and Lip, Gregory Y.H.
- Published
- 2024
- Full Text
- View/download PDF
12. Detection of subclinical atrial fibrillation with cardiac implanted electronic devices: What decision making on anticoagulation after the NOAH and ARTESiA trials?
- Author
-
Boriani, Giuseppe, Gerra, Luigi, Mei, Davide A, Bonini, Niccolo’, Vitolo, Marco, Proietti, Marco, and Imberti, Jacopo F
- Published
- 2024
- Full Text
- View/download PDF
13. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
- Author
-
Pagnamenta, Alistair T., Camps, Carme, Giacopuzzi, Edoardo, Taylor, John M., Hashim, Mona, Calpena, Eduardo, Kaisaki, Pamela J., Hashimoto, Akiko, Yu, Jing, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, Gerton, Dreau, Helene, Ferla, Matteo, Lange, Lukas, Kesim, Yesim, Ragoussis, Vassilis, Vavoulis, Dimitrios V., Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, Siddharth, Baños-Piñero, Benito, Beeson, David, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, Edward, Brasch-Andersen, Charlotte, Bull, Katherine R., Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, Yin, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L., Kreins, Alexandra Y., Kvikstad, Erika M., Langman, Craig B., Lester, Tracy, Lines, Kate E., Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H., Okoli, Steven, Ormondroyd, Elizabeth, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M., Pugh, Chris, Rad, Aboulfazl, Ramesh, Archana, Riva, Simone G., Roberts, Irene, Roy, Noémi, Salminen, Outi, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H., van Wijk, Richard, Vona, Barbara, Wall, Steven, Wang, Jing, Watkins, Hugh, Zak, Jaroslav, Schuh, Anna H., Kini, Usha, Wilkie, Andrew O. M., Popitsch, Niko, and Taylor, Jenny C.
- Published
- 2023
- Full Text
- View/download PDF
14. Sex-related differences in presentation, treatment, and outcomes of Asian patients with atrial fibrillation: a report from the prospective APHRS-AF Registry
- Author
-
Bucci, Tommaso, Shantsila, Alena, Romiti, Giulio Francesco, Teo, Wee-Siong, Park, Hyung-Wook, Shimizu, Wataru, Mei, Davide Antonio, Tse, Hung-Fat, Proietti, Marco, Chao, Tze-Fan, and Lip, Gregory Y. H.
- Published
- 2023
- Full Text
- View/download PDF
15. Asymptomatic vs. symptomatic atrial fibrillation: Clinical outcomes in heart failure patients
- Author
-
Boriani, Giuseppe, Bonini, Niccolo’, Vitolo, Marco, Mei, Davide A, Imberti, Jacopo F, Gerra, Luigi, Romiti, Giulio Francesco, Corica, Bernadette, Proietti, Marco, Diemberger, Igor, Dan, Gheorghe-Andrei, Potpara, Tatjana, and Lip, Gregory YH
- Published
- 2024
- Full Text
- View/download PDF
16. Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase
- Author
-
Buccoliero, Anna Maria, Caporalini, Chiara, Moscardi, Selene, Cetica, Valentina, Mei, Davide, Conti, Valerio, Nozzoli, Filippo, Bonaudo, Camilla, Battista, Francesca, Giordano, Flavio, Mura, Regina, Spacca, Barbara, Mussa, Federico, D’Onofrio, Vittoria, Guerrini, Renzo, Genitori, Lorenzo, and Scagnet, Mirko
- Published
- 2024
- Full Text
- View/download PDF
17. Atrial cardiomyopathy: An entity of emerging interest in the clinical setting
- Author
-
Boriani, Giuseppe, Gerra, Luigi, Mantovani, Marta, Tartaglia, Enrico, Mei, Davide A, Imberti, Jacopo F, Vitolo, Marco, and Bonini, Niccolò
- Published
- 2023
- Full Text
- View/download PDF
18. Patterns of oral anticoagulant use and outcomes in Asian patients with atrial fibrillation: a post-hoc analysis from the GLORIA-AF Registry
- Author
-
Abban, Dzifa Wosornu, Abdul, Nasser, Abud, Atilio Marcelo, Adams, Fran, Addala, Srinivas, Adragão, Pedro, Ageno, Walter, Aggarwal, Rajesh, Agosti, Sergio, Agostoni, Piergiuseppe, Aguilar, Francisco, Linares, Julio Aguilar, Aguinaga, Luis, Ahmed, Jameel, Aiello, Allessandro, Ainsworth, Paul, Aiub, Jorge Roberto, Al-Dallow, Raed, Alderson, Lisa, Aldrete Velasco, Jorge Antonio, Alexopoulos, Dimitrios, Manterola, Fernando Alfonso, Aliyar, Pareed, Alonso, David, Alves da Costa, Fernando Augusto, Amado, José, Amara, Walid, Amelot, Mathieu, Amjadi, Nima, Ammirati, Fabrizio, Andrade, Marianna, Andrawis, Nabil, Annoni, Giorgio, Ansalone, Gerardo, Ariani, M.Kevin, Arias, Juan Carlos, Armero, Sébastien, Arora, Chander, Aslam, Muhammad Shakil, Asselman, M., Audouin, Philippe, Augenbraun, Charles, Aydin, S., Ayryanova, Ivaneta, Aziz, Emad, Backes, Luciano Marcelo, Badings, E., Bagni, Ermentina, Baker, Seth H., Bala, Richard, Baldi, Antonio, Bando, Shigenobu, Banerjee, Subhash, Bank, Alan, Esquivias, Gonzalo Barón, Barr, Craig, Bartlett, Maria, Kes, Vanja Basic, Baula, Giovanni, Behrens, Steffen, Bell, Alan, Benedetti, Raffaella, Mazuecos, Juan Benezet, Benhalima, Bouziane, Bergler-Klein, Jutta, Berneau, Jean-Baptiste, Bernstein, Richard A., Berrospi, Percy, Berti, Sergio, Berz, Andrea, Best, Elizabeth, Bettencourt, Paulo, Betzu, Robert, Bhagwat, Ravi, Bhatta, Luna, Biscione, Francesco, Bisignani, Giovanni, Black, Toby, Bloch, Michael J., Bloom, Stephen, Blumberg, Edwin, Bo, Mario, Bøhmer, Ellen, Bollmann, Andreas, Bongiorni, Maria Grazia, Boriani, Giuseppe, Boswijk, D.J., Bott, Jochen, Bottacchi, Edo, Kalan, Marica Bracic, Bradman, Drew, Brautigam, Donald, Breton, Nicolas, Brouwers, P.J.A.M., Browne, Kevin, Cortada, Jordi Bruguera, Bruni, A., Brunschwig, Claude, Buathier, Hervé, Buhl, Aurélie, Bullinga, John, Cabrera, Jose Walter, Caccavo, Alberto, Cai, Shanglang, Caine, Sarah, Calò, Leonardo, Calvi, Valeria, Sánchez, Mauricio Camarillo, Candeias, Rui, Capuano, Vincenzo, Capucci, Alessandro, Caputo, Ronald, Rizo, Tatiana Cárdenas, Cardona, Francisco, Carlos da Costa Darrieux, Francisco, Duarte Vera, Yan Carlos, Carolei, Antonio, Carreño, Susana, Carvalho, Paula, Cary, Susanna, Casu, Gavino, Cavallini, Claudio, Cayla, Guillaume, Celentano, Aldo, Cha, Tae-Joon, Cha, Kwang Soo, Chae, Jei Keon, Chalamidas, Kathrine, Challappa, Krishnan, Chand, Sunil Prakash, Chandrashekar, Harinath, Chartier, Ludovic, Chatterjee, Kausik, Chavez Ayala, Carlos Antero, Cheema, Aamir, Cheema, Amjad, Chen, Lin, Chen, Shih-Ann, Chen, Jyh Hong, Chiang, Fu-Tien, Chiarella, Francesco, Chih-Chan, Lin, Cho, Yong Keun, Choi, Jong-Il, Choi, Dong Ju, Chouinard, Guy, Hoi-Fan Chow, Danny, Chrysos, Dimitrios, Chumakova, Galina, José Roberto, Eduardo Julián, Valenzuela, Chuquiure, Nica, Nicoleta Cindea, Cislowski, David J., Clay, Anthony, Clifford, Piers, Cohen, Andrew, Cohen, Michael, Cohen, Serge, Colivicchi, Furio, Collins, Ronan, Colonna, Paolo, Compton, Steve, Connolly, Derek, Conti, Alberto, Buenostro, Gabriel Contreras, Coodley, Gregg, Cooper, Martin, Coronel, Julian, Corso, Giovanni, Sales, Juan Cosín, Cottin, Yves, Covalesky, John, Cracan, Aurel, Crea, Filippo, Crean, Peter, Crenshaw, James, Cullen, Tina, Darius, Harald, Dary, Patrick, Dascotte, Olivier, Dauber, Ira, Davalos, Vicente, Davies, Ruth, Davis, Gershan, Davy, Jean-Marc, Dayer, Mark, De Biasio, Marzia, De Bonis, Silvana, De Caterina, Raffaele, De Franceschi, Teresiano, de Groot, J.R., De Horta, José, De La Briolle, Axel, Topete, Gilberto de la Pena, Vicenzo de Paola, Angelo Amato, de Souza, Weimar, de Veer, A., De Wolf, Luc, Decoulx, Eric, Deepak, Sasalu, Defaye, Pascal, Del-Carpio Munoz, Freddy, Brkljacic, Diana Delic, Deumite, N. Joseph, Di Legge, Silvia, Diemberger, Igor, Dietz, Denise, Dionísio, Pedro, Dong, Qiang, Rossi dos Santos, Fabio, Dotcheva, Elena, Doukky, Rami, D'Souza, Anthony, Dubrey, Simon, Ducrocq, Xavier, Dupljakov, Dmitry, Duque, Mauricio, Dutta, Dipankar, Duvilla, Nathalie, Duygun, A., Dziewas, Rainer, Eaton, Charles B., Eaves, William, Ebels-Tuinbeek; Clifford Ehrlich, L.A., Eichinger-Hasenauer, Sabine, Eisenberg, Steven J., El Jabali, Adnan, El Shahawy, Mahfouz, Hernandes, Mauro Esteves, Izal, Ana Etxeberria, Evonich, Rudolph, III, Evseeva, Oksana, Ezhov, Andrey, Fahmy, Raed, Fang, Quan, Farsad, Ramin, Fauchier, Laurent, Favale, Stefano, Fayard, Maxime, Fedele, Jose Luis, Fedele, Francesco, Fedorishina, Olga, Fera, Steven R., Gomes Ferreira, Luis Gustavo, Ferreira, Jorge, Ferri, Claudio, Ferrier, Anna, Ferro, Hugo, Finsen, Alexandra, First, Brian, Fischer, Stuart, Fonseca, Catarina, Almeida, Luísa Fonseca, Forman, Steven, Frandsen, Brad, French, William, Friedman, Keith, Friese, Athena, Fruntelata, Ana Gabriela, Fujii, Shigeru, Fumagalli, Stefano, Fundamenski, Marta, Furukawa, Yutaka, Gabelmann, Matthias, Gabra, Nashwa, Gadsbøll, Niels, Galinier, Michel, Gammelgaard, Anders, Ganeshkumar, Priya, Gans, Christopher, Quintana, Antonio Garcia, Gartenlaub, Olivier, Gaspardone, Achille, Genz, Conrad, Georger, Frédéric, Georges, Jean-Louis, Georgeson, Steven, Giedrimas, Evaldas, Gierba, Mariusz, Ortega, Ignacio Gil, Gillespie, Eve, Giniger, Alberto, Giudici, Michael C., Gkotsis, Alexandros, Glotzer, Taya V., Gmehling, Joachim, Gniot, Jacek, Goethals, Peter, Goldbarg, Seth, Goldberg, Ronald, Goldmann, Britta, Golitsyn, Sergey, Gómez, Silvia, Mesa, Juan Gomez, Gonzalez, Vicente Bertomeu, Gonzalez Hermosillo, Jesus Antonio, González López, Víctor Manuel, Gorka, Hervé, Gornick, Charles, Gorog, Diana, Gottipaty, Venkat, Goube, Pascal, Goudevenos, Ioannis, Graham, Brett, Greer, G. Stephen, Gremmler, Uwe, Grena, Paul G., Grond, Martin, Gronda, Edoardo, Grönefeld, Gerian, Gu, Xiang, Torres Torres, Ivett Guadalupe, Guardigli, Gabriele, Guevara, Carolina, Guignier, Alexandre, Gulizia, Michele, Gumbley, Michael, Günther, Albrecht, Ha, Andrew, Hahalis, Georgios, Hakas, Joseph, Hall, Christian, Han, Bing, Han, Seongwook, Hargrove, Joe, Hargroves, David, Harris, Kenneth B., Haruna, Tetsuya, Hayek, Emil, Healey, Jeff, Hearne, Steven, Heffernan, Michael, Heggelund, Geir, Heijmeriks, J.A., Hemels, Maarten, Hendriks, I., Henein, Sam, Her, Sung-Ho, Hermany, Paul, Hernández Del Río, Jorge Eduardo, Higashino, Yorihiko, Hill, Michael, Hisadome, Tetsuo, Hishida, Eiji, Hoffer, Etienne, Hoghton, Matthew, Hong, Kui, Hong, Suk keun, Horbach, Stevie, Horiuchi, Masataka, Hou, Yinglong, Hsing, Jeff, Huang, Chi-Hung, Huckins, David, Hughes, kathy, Huizinga, A., Hulsman, E.L., Hung, Kuo-Chun, Hwang, Gyo-Seung, Ikpoh, Margaret, Imberti, Davide, Ince, Hüseyin, Indolfi, Ciro, Inoue, Shujiro, Irles, Didier, Iseki, Harukazu, Israel, C. Noah, Iteld, Bruce, Iyer, Venkat, Jackson-Voyzey, Ewart, Jaffrani, Naseem, Jäger, Frank, James, Martin, Jang, Sung-Won, Jaramillo, Nicolas, Jarmukli, Nabil, Jeanfreau, Robert J., Jenkins, Ronald D., Sánchez, Carlos Jerjes, Jimenez, Javier, Jobe, Robert, Joen-Jakobsen, Tomas, Jones, Nicholas, Moura Jorge, Jose Carlos, Jouve, Bernard, Jung, Byung Chun, Jung, Kyung Tae, Jung, Werner, Kachkovskiy, Mikhail, Kafkala, Krystallenia, Kalinina, Larisa, Kallmünzer, Bernd, Kamali, Farzan, Kamo, Takehiro, Kampus, Priit, Kashou, Hisham, Kastrup, Andreas, Katsivas, Apostolos, Kaufman, Elizabeth, Kawai, Kazuya, Kawajiri, Kenji, Kazmierski, John F., Keeling, P., Kerr Saraiva, José Francisco, Ketova, Galina, Khaira, Ajit Singh, Khripun, Aleksey, Kim, Doo-Il, Kim, Young Hoon, Kim, Nam Ho, Kim, Dae Kyeong, Kim, Jeong Su, Kim, June Soo, Kim, Ki Seok, Kim, Jin bae, Kinova, Elena, Klein, Alexander, Kmetzo, James J., Kneller, G. Larsen, Knezevic, Aleksandar, Angela Koh, Su Mei, Koide, Shunichi, Kollias, Anastasios, Kooistra, J.A., Koons, Jay, Koschutnik, Martin, Kostis, William J., Kovacic, Dragan, Kowalczyk, Jacek, Koziolova, Natalya, Kraft, Peter, Kragten, Johannes A., Krantz, Mori, Krause, Lars, Krenning, B.J., Krikke, F., Kromhout, Z., Krysiak, Waldemar, Kumar, Priya, Kümler, Thomas, Kuniss, Malte, Kuo, Jen-Yuan, Küppers, Achim, Karla Kurrelmeyer, Kwak, Choong Hwan, Laboulle, Bénédicte, Labovitz, Arthur, Lai, Wen Ter, Lam, Andy, Lam, Yat Yin, Zanetti, Fernando Lanas, Landau, Charles, Landini, Giancarlo, Figueiredo, Estêvão Lanna, Larsen, Torben, Lavandier, Karine, LeBlanc, Jessica, Lee, Moon Hyoung, Lee, Chang-Hoon, Lehman, John, Leitão, Ana, Lellouche, Nicolas, Lelonek, Malgorzata, Lenarczyk, Radoslaw, Lenderink, T., González, Salvador León, Leong-Sit, Peter, Leschke, Matthias, Ley, Nicolas, Li, Zhanquan, Li, Xiaodong, Li, Weihua, Li, Xiaoming, Lichy, Christhoh, Lieber, Ira, Limon Rodriguez, Ramon Horacio, Lin, Hailong, Lip, Gregory Y.H., Liu, Feng, Liu, Hengliang, Esperon, Guillermo Llamas, Navarro, Nassip Llerena, Lo, Eric, Lokshyn, Sergiy, López, Amador, López-Sendón, José Luís, Lorga Filho, Adalberto Menezes, Lorraine, Richard S., Luengas, Carlos Alberto, Luke, Robert, Luo, Ming, Lupovitch, Steven, Lyrer, Philippe, Ma, Changsheng, Ma, Genshan, Madariaga, Irene, Maeno, Koji, Magnin, Dominique, Maid, Gustavo, Mainigi, Sumeet K., Makaritsis, Konstantinos, Malhotra, Rohit, Manning, Rickey, Manolis, Athanasios, Manrique Hurtado, Helard Andres, Mantas, Ioannis, Jattin, Fernando Manzur, Maqueda, Vicky, Marchionni, Niccolo, Ortuno, Francisco Marin, Santana, Antonio Martín, Martinez, Jorge, Maskova, Petra, Hernandez, Norberto Matadamas, Matsuda, Katsuhiro, Maurer, Tillmann, Mauro, Ciro, May, Erik, Mayer, Nolan, McClure, John, McCormack, Terry, McGarity, William, McIntyre, Hugh, McLaurin, Brent, Medina Palomino, Feliz Alvaro, Melandri, Francesco, Meno, Hiroshi, Menzies, Dhananjai, Mercader, Marco, Meyer, Christian, Meyer, Beat J., Miarka, Jacek, Mibach, Frank, Michalski, Dominik, Michel, Patrik, Chreih, Rami Mihail, Mikdadi, Ghiath, Mikus, Milan, Milicic, Davor, Militaru, Constantin, Minaie, Sedi, Minescu, Bogdan, Mintale, Iveta, Mirault, Tristan, Mirro, Michael J., Mistry, Dinesh, Miu, Nicoleta Violeta, Miyamoto, Naomasa, Moccetti, Tiziano, Mohammed, Akber, Nor, Azlisham Mohd, Mollerus, Michael, Molon, Giulio, Mondillo, Sergio, Moniz, Patrícia, Mont, Lluis, Montagud, Vicente, Montaña, Oscar, Monti, Cristina, Moretti, Luciano, Mori, Kiyoo, Moriarty, Andrew, Morka, Jacek, Moschini, Luigi, Moschos, Nikitas, Mügge, Andreas, Mulhearn, Thomas J., Muresan, Carmen, Muriago, Michela, Musial, Wlodzimierz, Musser, Carl W., Musumeci, Francesco, Nageh, Thuraia, Nakagawa, Hidemitsu, Nakamura, Yuichiro, Nakayama, Toru, Nam, Gi-Byoung, Nanna, Michele, Natarajan, Indira, Nayak, Hemal M., Naydenov, Stefan, Nazlić, Jurica, Cristian Nechita, Alexandru, Nechvatal, Libor, Negron, Sandra Adela, Neiman, James, Neuenschwander, Fernando Carvalho, Neves, David, Neykova, Anna, Miguel, Ricardo Nicolás, Nijmeh, George, Nizov, Alexey, Campos, Rodrigo Noronha, Nossan, Janko, Novikova, Tatiana, Nowalany-Kozielska, Ewa, Nsah, Emmanuel, Nunez Fragoso, Juan Carlos, Nurgalieva, Svetlana, Nuyens, Dieter, Nyvad, Ole, Odin de Los Rios Ibarra, Manuel, O'Donnell, Philip, O'Donnell, Martin, Oh, Seil, Oh, Yong Seog, Oh, Dongjin, O'Hara, Gilles, Oikonomou, Kostas, Olivares, Claudia, Oliver, Richard, Ruiz, Rafael Olvera, Olympios, Christoforos, omaszuk-Kazberuk, Anna, Asensi, Joaquín Osca, Jose, eena Padayattil, Padilla Padilla, Francisco Gerardo, Rios, Victoria Padilla, Pajes, Giuseppe, Pandey, Shekhar, Paparella, Gaetano, Paris, F., Park, Hyung Wook, Park, Jong Sung, Parthenakis, Fragkiskos, Passamonti, Enrico, Patel, Rajesh J., Patel, Jaydutt, Patel, Mehool, Patrick, Janice, Jimenez, Ricardo Pavón, Paz, Analía, Pengo, Vittorio, Pentz, William, Pérez, Beatriz, Pérez Ríos, Alma Minerva, Pérez-Cabezas, Alejandro, Perlman, Richard, Persic, Viktor, Perticone, Francesco, Peters, Terri K., Petkar, Sanjiv, Pezo, Luis Felipe, Pflücke, Christian, Pham, David N., Phillips, Roland T., Phlaum, Stephen, Pieters, Denis, Pineau, Julien, Pinter, Arnold, Pinto, Fausto, Pisters, R., Pivac, Nediljko, Pocanic, Darko, Podoleanu, Cristian, Politano, Alessandro, Poljakovic, Zdravka, Pollock, Stewart, Garcéa, Jose Polo, Poppert, Holger, Porcu, Maurizio, Reino, Antonio Pose, Prasad, Neeraj, Précoma, Dalton Bertolim, Prelle, Alessandro, Prodafikas, John, Protasov, Konstantin, Pye, Maurice, Qiu, Zhaohui, Quedillac, Jean-Michel, Raev, Dimitar, Raffo Grado, Carlos Antonio, Rahimi, Sidiqullah, Raisaro, Arturo, Rama, Bhola, Ramos, Ricardo, Ranieri, Maria, Raposo, Nuno, Rashba, Eric, Rauch-Kroehnert, Ursula, Reddy, Ramakota, Renda, Giulia, Reza, Shabbir, Ria, Luigi, Richter, Dimitrios, Rickli, Hans, Rieker, Werner, Vera, Tomas Ripolil, Ritt, Luiz Eduardo, Roberts, Douglas, Briones, Ignacio Rodriguez, Rodriguez Escudero, Aldo Edwin, Pascual, Carlos Rodríguez, Roman, Mark, Romeo, Francesco, Ronner, E., Roux, Jean-Francois, Rozkova, Nadezda, Rubacek, Miroslav, Rubalcava, Frank, Russo, Andrea M., Rutgers, Matthieu Pierre, Rybak, Karin, Said, Samir, Sakamoto, Tamotsu, Salacata, Abraham, Salem, Adrien, Bodes, Rafael Salguero, Saltzman, Marco A., Salvioni, Alessandro, Vallejo, Gregorio Sanchez, Fernández, Marcelo Sanmartín, Saporito, Wladmir Faustino, Sarikonda, Kesari, Sasaoka, Taishi, Sati, Hamdi, Savelieva, Irina, Scala, Pierre-Jean, Schellinger, Peter, Scherr, Carlos, Schmitz, Lisa, Schmitz, Karl-Heinz, Schmitz, Bettina, Schnabel, Teresa, Schnupp, Steffen, Schoeniger, Peter, Schön, Norbert, Schwimmbeck, Peter, Seamark, Clare, Searles, Greg, Seidl, Karl-Heinz, Seidman, Barry, Sek, Jaroslaw, Sekaran, Lakshmanan, Serrati, Carlo, Shah, Neerav, Shah, Vinay, Shah, Anil, Shah, Shujahat, Sharma, Vijay Kumar, Shaw, Louise, Sheikh, Khalid H., Shimizu, Naruhito, Shimomura, Hideki, Shin, Dong-Gu, Shin, Eun-Seok, Shite, Junya, Sibilio, Gerolamo, Silver, Frank, Sime, Iveta, Simmers, Tim A., Singh, Narendra, Siostrzonek, Peter, Smadja, Didier, Smith, David W., Snitman, Marcelo, Filho, Dario Sobral, Soda, Hassan, Sofley, Carl, Sokal, Adam, Oi Yan, Yannie Soo, Sotolongo, Rodolfo, Ferreira de Souza, Olga, Sparby, Jon Arne, Spinar, Jindrich, Sprigings, David, Spyropoulos, Alex C., Stakos, Dimitrios, Steinwender, Clemens, Stergiou, Georgios, Stiell, Ian, Stoddard, Marcus, Stoikov, Anastas, Streb, Witold, Styliadis, Ioannis, Su, Guohai, Su, Xi, Sudnik, Wanda, Sukles, Kai, Sun, Xiaofei, Swart, H., Szavits-Nossan, Janko, Taggeselle, Jens, Takagi, Yuichiro, Singh Takhar, Amrit Pal, Tamm, Angelika, Tanaka, Katsumi, Tanawuttiwat, Tanyanan, Tang, Sherman, Tang, Aylmer, Tarsi, Giovanni, Tassinari, Tiziana, Tayal, Ashis, Tayebjee, Muzahir, Berg, J.M. ten, Tesloianu, Dan, The, Salem H.K., Thomas, Dierk, Timsit, Serge, Tobaru, Tetsuya, Tomasik, Andrzej R., Torosoff, Mikhail, Touze, Emmanuel, Trendafilova, Elina, Tsai, W. Kevin, Tse, Hung Fat, Tsutsui, Hiroshi, Tu, Tian Ming, Tuininga, Ype, Turakhia, Minang, Turk, Samir, Turner, Wayne, Tveit, Arnljot, Tytus, Richard, Valadão, C., van Bergen, P.F.M.M., van de Borne, Philippe, van den Berg, B.J., van der Zwaan, C., Van Eck, M., Vanacker, Peter, Vasilev, Dimo, Vasilikos, Vasileios, Vasilyev, Maxim, Veerareddy, Srikar, Miño; Asok Venkataraman, Mario Vega, Verdecchia, Paolo, Versaci, Francesco, Vester, Ernst Günter, Vial, Hubert, Victory, Jason, Villamil, Alejandro, Vincent, Marc, Vlastaris, Anthony, Dahl, Jürgen vom, Vora, Kishor, Vranian, Robert B., Wakefield, Paul, Wang, Ningfu, Wang, Mingsheng, Wang, Xinhua, Wang, Feng, Wang, Tian, Warner, Alberta L., Watanabe, Kouki, Wei, Jeanne, Weimar, Christian, Weiner, Stanislav, Weinrich, Renate, Wen, Ming-Shien, Wiemer, Marcus, Wiggers, Preben, Wilke, Andreas, Williams, David, Williams, Marcus L., Witzenbichler, Bernhard, Wong, Brian, Lawrence Wong, Ka Sing, Wozakowska-Kaplon, Beata, Wu, Shulin, Wu, Richard C., Wunderlich, Silke, Wyatt, Nell, Wylie, John (Jack), Xu, Yong, Xu, Xiangdong, Yamanoue, Hiroki, Yamashita, Takeshi, Bryan Yan, Ping Yen, Yang, Tianlun, Yao, Jing, Yeh, Kuo-Ho, Yin, Wei Hsian, Yotov, Yoto, Zahn, Ralf, Zarich, Stuart, Zenin, Sergei, Zeuthen, Elisabeth Louise, Zhang, Huanyi, Zhang, Donghui, Zhang, Xingwei, Zhang, Ping, Zhang, Jun, Zhao, Shui Ping, Zhao, Yujie, Zhao, Zhichen, Zheng, Yang, Zhou, Jing, Zimmermann, Sergio, Zini, Andrea, Zizzo, Steven, Zong, Wenxia, Zukerman, L. Steven, Romiti, Giulio Francesco, Corica, Bernadette, Proietti, Marco, Mei, Davide Antonio, Frydenlund, Juliane, Bisson, Arnaud, Olshansky, Brian, Chan, Yi-Hsin, Huisman, Menno V., and Chao, Tze-Fan
- Published
- 2023
- Full Text
- View/download PDF
19. Remote multiparametric monitoring and management of heart failure patients through cardiac implantable electronic devices
- Author
-
Boriani, Giuseppe, Imberti, Jacopo F., Bonini, Niccolò, Carriere, Cosimo, Mei, Davide A., Zecchin, Massimo, Piccinin, Francesca, Vitolo, Marco, and Sinagra, Gianfranco
- Published
- 2023
- Full Text
- View/download PDF
20. Cardiac Surgery in Jehovah's Witnesses Patients and Association With Peri-Operative Outcomes: A Systematic Review and Meta-Analysis
- Author
-
Vitolo, Marco, Mei, Davide A., Cimato, Paolo, Bonini, Niccolò, Imberti, Jacopo F., Cataldo, Paolo, Menozzi, Matteo, Filippini, Tommaso, Vinceti, Marco, and Boriani, Giuseppe
- Published
- 2023
- Full Text
- View/download PDF
21. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
- Author
-
Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, and Guerrini, Renzo
- Published
- 2023
- Full Text
- View/download PDF
22. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
- Author
-
Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Nigro, Vincenzo, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Banfi, Sandro, Varavallo, Alessandra, Selicorni, Angelo, Mariani, Milena, Massimello, Marta, Daolio, Cecilia, Capra, Valeria, Accogli, Andrea, Scala, Marcello, Leuzzi, Vincenzo, Nardecchia, Francesca, Galosi, Serena, Mastrangelo, Mario, Milani, Donatella, Vitiello, Giuseppina, Piluso, Giulio, Romano, Corrado, Failla, Pinella, Greco, Donatella, Pantaleoni, Chiara, Ciaccio, Claudia, D’Arrigo, Stefano, Brunetti Pierri, Nicola, Parenti, Giancarlo, Coppola, Antonietta, Mattina, Teresa, Zollino, Marcella, Amenta, Simona, Tummolo, Albina, Santoro, Claudia, Grandone, Anna, De Brasi, Daniele, Varone, Antonio, Garavelli, Livia, Marini, Carla, Bigoni, Stefania, Piscopo, Carmelo, Trabacca, Antonio, De Rinaldis, Marta, Peron, Angela, Venditti, Rossella, Theodorou, Evangelos, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Agrawal, Pankaj B., Del Bene, Filippo, and Franco, Brunella
- Published
- 2023
- Full Text
- View/download PDF
23. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
- Author
-
Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, and Lupski, James R.
- Published
- 2023
- Full Text
- View/download PDF
24. Comparative analysis of level of evidence and class of recommendation for 50 clinical practice guidelines released by the European Society of Cardiology from 2011 to 2022
- Author
-
Boriani, Giuseppe, Venturelli, Andrea, Imberti, Jacopo F, Bonini, Niccolò, Mei, Davide A, and Vitolo, Marco
- Published
- 2023
- Full Text
- View/download PDF
25. Features of Clinical Complexity in European Patients With Atrial Fibrillation: A Report From a European Observational Prospective AF Registry
- Author
-
Proietti, Marco, Romiti, Giulio F., Corica, Bernadette, Mei, Davide A., Bonini, Niccolò, Vitolo, Marco, Imberti, Jacopo F., Boriani, Giuseppe, and Lip, Gregory Y.H.
- Published
- 2023
- Full Text
- View/download PDF
26. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
-
Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
- Published
- 2023
- Full Text
- View/download PDF
27. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
- Author
-
Pelorosso, Cristiana, Watrin, Françoise, Conti, Valerio, Buhler, Emmanuelle, Gelot, Antoinette, Yang, Xiaoxu, Mei, Davide, McEvoy-Venneri, Jennifer, Manent, Jean-Bernard, Cetica, Valentina, Ball, Laurel L, Buccoliero, Anna Maria, Vinck, Antonin, Barba, Carmen, Gleeson, Joseph G, Guerrini, Renzo, and Represa, Alfonso
- Subjects
Rare Diseases ,Neurosciences ,Epilepsy ,Genetics ,Neurodegenerative ,Tuberous Sclerosis ,Brain Disorders ,Pediatric ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Animals ,Brain ,Child ,Drug Resistant Epilepsy ,Female ,Hemimegalencephaly ,Humans ,Malformations of Cortical Development ,Malformations of Cortical Development ,Group I ,Mice ,Mosaicism ,Mutation ,Neurons ,Ribosomal Protein S6 ,TOR Serine-Threonine Kinases ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Single germline or somatic activating mutations of mammalian target of rapamycin (mTOR) pathway genes are emerging as a major cause of type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC). A double-hit mechanism, based on a primary germline mutation in one allele and a secondary somatic hit affecting the other allele of the same gene in a small number of cells, has been documented in some patients with TSC or FCD. In a patient with HME, severe intellectual disability, intractable seizures and hypochromic skin patches, we identified the ribosomal protein S6 (RPS6) p.R232H variant, present as somatic mosaicism at ~15.1% in dysplastic brain tissue and ~11% in blood, and the MTOR p.S2215F variant, detected as ~8.8% mosaicism in brain tissue, but not in blood. Overexpressing the two variants independently in animal models, we demonstrated that MTOR p.S2215F caused neuronal migration delay and cytomegaly, while RPS6 p.R232H prompted increased cell proliferation. Double mutants exhibited a more severe phenotype, with increased proliferation and migration defects at embryonic stage and, at postnatal stage, cytomegalic cells exhibiting eccentric nuclei and binucleation, which are typical features of balloon cells. These findings suggest a synergistic effect of the two variants. This study indicates that, in addition to single activating mutations and double-hit inactivating mutations in mTOR pathway genes, severe forms of cortical dysplasia can also result from activating mutations affecting different genes in this pathway. RPS6 is a potential novel disease-related gene.
- Published
- 2019
28. Clinical spectrum of STX1B-related epileptic disorders.
- Author
-
Cilio, Maria, Van Paesschen, Wim, Svendsen, Lene, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair, Vavoulis, Dimitris, Knight, Samantha, Taylor, Jenny, Canevini, Maria, Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric, Kluger, Gerhard, Lowenstein, Daniel, Weckhuysen, Sarah, Pal, Deb, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys, Rees, Mark, Lesca, Gaetan, Sisodiya, Sanjay, Weber, Yvonne, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian, Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke, Balestrini, Simona, Helbig, Katherine, Altuzarra, Cecilia, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce, and Numis, Adam
- Subjects
Adolescent ,Anticonvulsants ,Child ,Child ,Preschool ,Developmental Disabilities ,Drug Resistant Epilepsy ,Electroencephalography ,Epilepsies ,Partial ,Epileptic Syndromes ,Female ,High-Throughput Nucleotide Sequencing ,Humans ,Infant ,Infant ,Newborn ,Learning Disabilities ,Loss of Function Mutation ,Male ,Mutation ,Missense ,Phenotype ,Seizures ,Febrile ,Sequence Analysis ,DNA ,Syntaxin 1 ,Young Adult - Abstract
OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.
- Published
- 2019
29. Atrial fibrillation in vascular surgery: a systematic review and meta-analysis on prevalence, incidence and outcome implications
- Author
-
Malavasi, Vincenzo L., Muto, Federico, Ceresoli, Pietro A.C.M., Menozzi, Matteo, Righelli, Ilaria, Gerra, Luigi, Vitolo, Marco, Imberti, Jacopo F., Mei, Davide A., Bonini, Niccolò, Gargiulo, Mauro, and Boriani, Giuseppe
- Published
- 2023
- Full Text
- View/download PDF
30. Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists
- Author
-
McTague, Amy, Brunklaus, Andreas, Barcia, Giulia, Varadkar, Sophia, Zuberi, Sameer M., Chatron, Nicolas, Parrini, Elena, Mei, Davide, Nabbout, Rima, and Lesca, Gaetan
- Published
- 2022
- Full Text
- View/download PDF
31. Comparing atrial fibrillation guidelines: Focus on stroke prevention, bleeding risk assessment and oral anticoagulant recommendations
- Author
-
Imberti, Jacopo Francesco, Mei, Davide Antonio, Vitolo, Marco, Bonini, Niccolò, Proietti, Marco, Potpara, Tatjana, Lip, Gregory Y.H., and Boriani, Giuseppe
- Published
- 2022
- Full Text
- View/download PDF
32. National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
- Author
-
Mei, Davide, Balestrini, Simona, Parrini, Elena, Gambardella, Antonio, Annesi, Grazia, De Giorgis, Valentina, Gana, Simone, Teresa Bassi, Maria, Zucca, Claudio, Elia, Maurizio, Vetri, Luigi, Castellotti, Barbara, Ragona, Francesca, Mastrangelo, Mario, Pisani, Francesco, d'Orsi, Giuseppe, Carella, Massimo, Pruna, Dario, Giglio, Sabrina, and Marini, Carla
- Abstract
Background We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period. Methods Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022. These data were used as a proxy to estimate the prevalence rate of DEEs. Results We included 1568 unique patients and found a mean incidence proportion of 2.6 patients for 100.000 inhabitants (SD=1.13) with consistent values across most Italian regions. The number of molecular diagnoses showed a continuing positive trend, resulting in more than a 10-fold increase between 2012 and 2022. The mean age at molecular diagnosis was 11.2 years (range 0-75). Pathogenic or likely pathogenic variants in genes with an autosomal dominant inheritance pattern occurred in 77% (n=1207) patients; 17% (n=271) in X-linked genes and 6% (n=90) in genes with autosomal recessive inheritance. The most frequently reported genes in the survey were SCN1A (16%), followed by KCNQ2 (5.6%) and SCN2A (5%). Conclusion Our study provides a large dataset of patients with monogenic DEE, from a European country. This is essential for informing decision-makers in drug development on the appropriateness of initiatives aimed at developing precision medicine therapies and is instrumental in implementing disease-specific registries and natural history studies. [ABSTRACT FROM AUTHOR]
- Published
- 2025
- Full Text
- View/download PDF
33. Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene.
- Author
-
Parrini, Elena, Balestrini, Simona, Rutigliano, Domenico, Ricci, Maria Luisa, Mei, Davide, and Guerrini, Renzo
- Abstract
The centrosomal protein 83 (CEP83) is a centriolar protein involved in primary cilium assembly, an early and critical step in ciliogenesis. Bi‐allelic pathogenic variants in the CEP83 gene have been associated with infantile nephronophthisis and, in a few patients, retinitis pigmentosa. We describe a 5‐year‐old boy with bilateral perisylvian polymicrogyria, intellectual disability, and nephronophthisis in whom, using exome sequencing, we identified the c.1052T>G p.(Leu351*) stopgain variant inherited from the father and the c.2024T>C p.(Leu675Pro) missense variant inherited from the mother, in a compound heterozygous pattern. Polymicrogyria or, in general, malformations of cortical development had not been previously observed in patients with pathogenic CEP83 variants. However, defects in CEP83 can affect the formation and function of cilia or centrosomal structures, resulting in a polymicrogyric pattern overlapping with that associated with pathogenic variants affecting other genes coding for centrosomal components. This observation expands the spectrum of phenotypes associated with the CEP83 gene and adds it to the list of genes associated with bilateral perisylvian polymicrogyria. [ABSTRACT FROM AUTHOR]
- Published
- 2025
- Full Text
- View/download PDF
34. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
- Author
-
Gasparini, Simone, Balestrini, Simona, Saccaro, Luigi Francesco, Bacci, Giacomo, Panichella, Giorgia, Montomoli, Martino, Cantalupo, Gaetano, Bigoni, Stefania, Mancano, Giorgia, Pellacani, Simona, Leuzzi, Vincenzo, Volpi, Nila, Mari, Francesco, Melani, Federico, Cavallin, Mara, Pisano, Tiziana, Porcedda, Giulio, Vaglio, Augusto, Mei, Davide, and Barba, Carmen
- Published
- 2024
- Full Text
- View/download PDF
35. Cardiac resynchronization therapy (CRT) non-responders in the contemporary era: A State-of-the-Art review
- Author
-
Gerra, Luigi, primary, Bonini, Niccolò, additional, Mei, Davide Antonio, additional, Imberti, Jacopo Francesco, additional, Vitolo, Marco, additional, Bucci, Tommaso, additional, Boriani, Giuseppe, additional, and Lip, Gregory Y.H., additional
- Published
- 2024
- Full Text
- View/download PDF
36. Distinct gene-set burden patterns underlie common generalized and focal epilepsies
- Author
-
Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, DeJonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther M C, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O'Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, vanBaalen, Andreas, vonSpiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I, Chung, Seo-Kyung, Pickrell, William O, Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R, Auce, Pauls, Sills, Graeme J, Baum, Larry W, Sham, Pak C, Cherny, Stacey S, Lui, Colin H T, Barišić, Nina, Delanty, Norman, Doherty, Colin P, Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G, King, Chontelle, Mountier, Emily, Caglayan, Hande S, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R, Shain, Catherine, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R, Lo, Warren, Privitera, Michael, French, Jacqueline A, Schachter, Steven, Kuzniecky, Ruben I, Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L, Ellis, Colin A, Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T, Pato, Carlos N, Bromet, Evelyn J, Carvalho, Celia Barreto, Achtyes, Eric D, Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S, Malaspina, Dolores, Marder, Stephen R, Medeiros, Helena, Morley, Christopher P, Perkins, Diana O, Sobell, Janet L, Buckley, Peter F, Macciardi, Fabio, Rapaport, Mark H, Knowles, James A, Cohort, Genomic Psychiatry, Fanous, Ayman H, McCarroll, Steven A, Gupta, Namrata, Gabriel, Stacey B, Daly, Mark J, Lander, Eric S, Lowenstein, Daniel H, Goldstein, David B, Lerche, Holger, Berkovic, Samuel F, Neale, Benjamin M, Koko, Mahmoud, Sander, Thomas, Bobbili, Dheeraj Reddy, and Nothnagel, Michael
- Published
- 2021
- Full Text
- View/download PDF
37. CDKL5 deficiency disorder in males: Five new variants and review of the literature
- Author
-
Siri, Barbara, Varesio, Costanza, Freri, Elena, Darra, Francesca, Gana, Simone, Mei, Davide, Porta, Francesco, Fontana, Elena, Galati, Giulia, Solazzi, Roberta, Niceta, Marcello, Veggiotti, Pierangelo, and Alfei, Enrico
- Published
- 2021
- Full Text
- View/download PDF
38. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
- Author
-
Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, von Wrede, Randi, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Khoueiry Zgheib, Nathalie, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, YeşÇiğdem, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., and Goldstein, David B.
- Published
- 2021
- Full Text
- View/download PDF
39. Clinical decisions for appropriate management of patients with atrial fibrillation.
- Author
-
BORIANI, Giuseppe, BONINI, Niccolò, IMBERTI, Jacopo F., VITOLO, Marco, GERRA, Luigi, MANTOVANI, Marta, SERAFINI, Kevin, BIRTOLO, Chiara, TARTAGLIA, Enrico, and MEI, Davide A.
- Published
- 2024
- Full Text
- View/download PDF
40. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
- Author
-
Barresi, Sabina, Dentici, Maria Lisa, Manzoni, Francesca, Bellacchio, Emanuele, Agolini, Emanuele, Pizzi, Simone, Ciolfi, Andrea, Tarnopolsky, Mark, Brady, Lauren, Garone, Giacomo, Novelli, Antonio, Mei, Davide, Guerrini, Renzo, Capuano, Alessandro, Pantaleoni, Chiara, and Tartaglia, Marco
- Published
- 2020
- Full Text
- View/download PDF
41. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
- Author
-
Zhu, Xiaolin, Padmanabhan, Raghavendra, Copeland, Brett, Bridgers, Joshua, Ren, Zhong, Kamalakaran, Sitharthan, O'Driscoll-Collins, Ailbhe, Berkovic, Samuel F, Scheffer, Ingrid E, Poduri, Annapurna, Mei, Davide, Guerrini, Renzo, Lowenstein, Daniel H, Allen, Andrew S, Heinzen, Erin L, and Goldstein, David B
- Subjects
Biological Sciences ,Genetics ,Neurodegenerative ,Biotechnology ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Case-Control Studies ,DNA Mutational Analysis ,Epilepsy ,Female ,Genes ,Dominant ,Genome-Wide Association Study ,Humans ,Male ,Munc18 Proteins ,Mutation ,NAV1.2 Voltage-Gated Sodium Channel ,Nerve Tissue Proteins ,Potassium Channels ,Potassium Channels ,Sodium-Activated ,Exome Sequencing ,Developmental Biology - Abstract
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes causing dominant forms of EE originally implicated by DNM analysis. We performed a genome-wide search for an enrichment of "qualifying variants" in protein-coding genes in 488 unrelated cases compared to 12,151 unrelated controls. These "qualifying variants" were selected to be extremely rare variants predicted to functionally impact the protein to enrich for likely pathogenic variants. Despite modest sample size, three known EE genes (KCNT1, SCN2A, and STXBP1) achieved genome-wide significance (p
- Published
- 2017
42. Atrial fibrillation, comorbidities, stroke, and mortality in real-world clinical practice
- Author
-
Boriani, Giuseppe, primary, Mei, Davide A., additional, and Imberti, Jacopo F., additional
- Published
- 2024
- Full Text
- View/download PDF
43. Personalized clinical management of patients with atrial fibrillation: is a biomarker-based strategy for prediction of sinus rhythm persistence ready for prime time?
- Author
-
Boriani, Giuseppe, Mei, Davide Antonio, and Imberti, Jacopo Francesco
- Subjects
NEUROSCIENCES ,TRANSIENT ischemic attack ,ACUTE coronary syndrome ,BONE morphogenetic proteins ,DISEASE risk factors ,ELECTRONOGRAPHY ,CAUSE of death statistics - Abstract
The article in the European Heart Journal explores the use of biomarkers to predict the persistence of sinus rhythm in patients with atrial fibrillation. The study found that higher levels of certain biomarkers, such as ANGPT2, BMP10, and NT-proBNP, were associated with a reduced likelihood of maintaining sinus rhythm. These findings suggest that biomarkers could play a role in identifying patients who may benefit from early rhythm control strategies. The study highlights the complexity of atrial fibrillation pathophysiology and the potential for personalized clinical management based on biomarker analysis. [Extracted from the article]
- Published
- 2024
- Full Text
- View/download PDF
44. Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies
- Author
-
Genetica, Genetica Klinische Genetica, Brain, Genetica Oper.Mang. Clinical Genetics, Child Health, Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas, Genetica, Genetica Klinische Genetica, Brain, Genetica Oper.Mang. Clinical Genetics, Child Health, Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, and Brunklaus, Andreas
- Published
- 2024
45. Clinical and molecular characterization of patients with YWHAG-related epilepsy
- Author
-
Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette S., Marjanovic, Dragan, Rougeot-Jung, Christelle, Jung, Julien, Lesieur-Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, Guerrini, Renzo, Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon yin B., Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel H., Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette S., Marjanovic, Dragan, Rougeot-Jung, Christelle, Jung, Julien, Lesieur-Sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal W., Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng Han, Bisulli, Francesca, Hammer, Trine B., Lupski, James R., Parrini, Elena, and Guerrini, Renzo
- Abstract
Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. Results: The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype–phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p <.001). Significance: This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype–phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.
- Published
- 2024
46. Developmental epileptic encephalopathy in DLG4-related synaptopathy
- Author
-
Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido
- Abstract
Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi
- Published
- 2024
47. Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity
- Author
-
Kyrousi, Christina, O’Neill, Adam C., Brazovskaja, Agnieska, He, Zhisong, Kielkowski, Pavel, Coquand, Laure, Di Giaimo, Rossella, D’ Andrea, Pierpaolo, Belka, Alexander, Forero Echeverry, Andrea, Mei, Davide, Lenge, Matteo, Cruceanu, Cristiana, Buchsbaum, Isabel Y., Khattak, Shahryar, Fabien, Guimiot, Binder, Elisabeth, Elmslie, Frances, Guerrini, Renzo, Baffet, Alexandre D., Sieber, Stephan A., Treutlein, Barbara, Robertson, Stephen P., and Cappello, Silvia
- Published
- 2021
- Full Text
- View/download PDF
48. What is the role of next generation sequencing in status epilepticus?
- Author
-
Guerrini, Renzo, Parrini, Elena, Marini, Carla, and Mei, Davide
- Published
- 2019
- Full Text
- View/download PDF
49. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
- Author
-
Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M.C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H.T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., and Neale, Benjamin M.
- Published
- 2019
- Full Text
- View/download PDF
50. Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies
- Author
-
Gallagher, Declan, primary, Pérez‐Palma, Eduardo, additional, Bruenger, Tobias, additional, Ghanty, Ismael, additional, Brilstra, Eva, additional, Ceulemans, Berten, additional, Chemaly, Nicole, additional, de Lange, Iris, additional, Depienne, Christel, additional, Guerrini, Renzo, additional, Mei, Davide, additional, Møller, Rikke S., additional, Nabbout, Rima, additional, Regan, Brigid M., additional, Schneider, Amy L., additional, Scheffer, Ingrid E., additional, Schoonjans, An‐Sofie, additional, Symonds, Joseph D., additional, Weckhuysen, Sarah, additional, Zuberi, Sameer M., additional, Lal, Dennis, additional, and Brunklaus, Andreas, additional
- Published
- 2024
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.