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360 results on '"Mancardi, Maria Margherita"'

3. Epilepsy after acute central nervous system complications of pediatric hematopoietic cell transplantation: A retrospective, multicenter study

Author

Bergonzini, Luca, Leardini, Davide, Rao, Roberta, Foiadelli, Thomas, Faraci, Maura, Mancardi, Maria Margherita, Nobile, Giulia, Orsini, Alessandro, Savasta, Salvatore, Gottardi, Francesca, Fetta, Anna, Mina, Tommaso, Casazza, Gabriella, Menconi, Maria Cristina, Pruna, Dario, Mura, Rosa Maria, Piroddi, Antonio, Rucci, Paola, Masetti, Riccardo, and Cordelli, Duccio Maria

Published
2024
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4. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Author

Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, and Nagata, Koh Ichi

Subjects
Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G > C p.G12R, c.179G > A p.G60D, c.186_188delGGA p.E62del, c.187G > A p.D63N, c.191A > G p.Y64C and c.348G > C p.K116N. We then examined the pathophysiological significance of these novel and previously reported pathogenic variants p.P29L, p.P34R, p.A59G, p.Q61L and p.E62K. In vitro analyses revealed that all tested RAC3 variants were biochemically and biologically active to variable extent, and exhibited a spectrum of different affinities to downstream effectors including p21-activated kinase 1. We then focused on the four variants p.Q61L, p.E62del, p.D63N and p.Y64C in the Switch II region, which is essential for the biochemical activity of small GTPases and also a variation hot spot common to other Rho family genes, RAC1 and CDC42. Acute expression of the four variants in embryonic mouse brain using in utero electroporation caused defects in cortical neuron morphology and migration ending up with cluster formation during corticogenesis. Notably, defective migration by p.E62del, p.D63N and p.Y64C were rescued by a dominant negative version of p21-activated kinase 1. Our results indicate that RAC3 variants result in morphological and functional defects in cortical neurons during brain development through variant-specific mechanisms, eventually leading to heterogeneous neurodevelopmental phenotypes.

Published
2022

7. GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Author

Varesio, Costanza, De Giorgis, Valentina, Veggiotti, Pierangelo, Nardocci, Nardo, Granata, Tiziana, Ragona, Francesca, Pasca, Ludovica, Mensi, Martina Maria, Borgatti, Renato, Olivotto, Sara, Previtali, Roberto, Riva, Antonella, Mancardi, Maria Margherita, Striano, Pasquale, Cavallin, Mara, Guerrini, Renzo, Operto, Francesca Felicia, Pizzolato, Alice, Di Maulo, Ruggero, Martino, Fabiola, Lodi, Andrea, and Marini, Carla

Published
2023
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8. Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study

Author

Toldo, Irene, Brunello, Francesco, Cavasin, Paola, Nosadini, Margherita, Sartori, Stefano, Frigo, Anna Chiara, Mai, Roberto, Pelliccia, Veronica, Mancardi, Maria Margherita, Striano, Pasquale, Severino, Marisavina, Zara, Federico, Rizzi, Romana, Casellato, Susanna, Di Rosa, Gabriella, Mastrangelo, Mario, Spalice, Alberto, Budetta, Mauro, De Palma, Luca, Guerrini, Renzo, Pruna, Dario, Cordelli, Duccio Maria, Sofia, Vito, Papa, Amanda, Chiesa, Valentina, Ragona, Francesca, Parisi, Pasquale, D'Aniello, Alfredo, Veggiotti, Pierangelo, Dainese, Filippo, Giordano, Lucio, Licchetta, Laura, Tinuper, Paolo, D'Orsi, Giuseppe, Cassina, Matteo, and Manara, Renzo

Published
2023
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9. Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence

Author

Russo, Angelo, Pruccoli, Jacopo, Cesaroni, Carlo Alberto, Belotti, Laura Maria Beatrice, Zenesini, Corrado, Bonanni, Paolo, Boni, Antonella, Cesaroni, Elisabetta, Coppola, Giangennaro, Cordelli, Duccio Maria, Danieli, Alberto, Mancardi, Maria Margherita, Marchese, Francesca, Matricardi, Sara, Messana, Tullio, Nocera, Giovanna Martina, Operto, Francesca Felicia, Pellino, Giuditta, Reina, Federica, Vanadia, Francesca, Verrotti, Alberto, and Striano, Pasquale

Published
2022
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10. Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome.

Author

El Hachem, May, Diociaiuti, Andrea, Galeotti, Angela, Grussu, Francesca, Gusson, Elena, Ferretti, Alessandro, Marras, Carlo Efisio, Vecchio, Davide, Cappelletti, Simona, Severino, Mariasavina, Gandolfo, Carlo, Reali, Simone, Longo, Rosa, D'Amore, Carmen, Gariazzo, Lodovica, Marraffa, Federica, Ciofi Degli Atti, Marta Luisa, Mancardi, Maria Margherita, and the Sturge-Weber Syndrome Multidisciplinary Group, and Aristei, Francesco

Subjects
MEDICAL sciences, SYMPTOMS, THERAPEUTICS, DELPHI method, NEUROCUTANEOUS disorders
Abstract

Background: Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc. An early diagnosis is crucial to guarantee an appropriate care, which is best performed in reference centres by multidisciplinary teams. The aim of this study was to develop a multidisciplinary expert consensus for diagnosis, treatment, and follow-up of all disease manifestations, according to the recommendations of the Italian Law on Rare Disease Care. Results: Through a Delphi consensus methodology, 28 recommendations have been developed concerning (i) dermatological SWS manifestations and related treatment timing and modalities, (ii) neurological referral, diagnosis, pharmacological treatment of neurological signs and symptoms, neurosurgical indications, neurocognitive evaluation and related treatment, psychosocial support and patient follow-up, (iii) diagnosis of ophthalmological manifestations, medical and surgical treatment, and follow-up, (iv) maxillofacial surgical treatment, (v) oral cavity assessment, care and follow-up, and (vi) primary care paediatrician/general practitioner involvement. Conclusions: The present consensus developed by a multidisciplinary group of experts from Italian reference centres comprises practical recommendations for SWS global management, including currently controversial issues. Specific statements for all disease aspects, from skin manifestations and neurological and ocular signs and symptoms to oral and maxillofacial care, are provided. They can be exploited to uniform clinical practice in reference centres, but also in other hospitals and outpatient settings. Though this consensus has been developed taking primarily into account the Italian National Health System organization and rules on rare disorders, it could be translated also to other countries. [ABSTRACT FROM AUTHOR]

Published
2025
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13. 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
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15. 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
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16. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

Author

Nosadini, Margherita, Eyre, Michael, Giacomini, Thea, Valeriani, Massimiliano, Della Corte, Marida, Praticò, Andrea D., Annovazzi, Pietro, Cordani, Ramona, Cordelli, Duccio Maria, Crichiutti, Giovanni, Di Rosa, Gabriella, Dolcemascolo, Valentina, Fetta, Anna, Freri, Elena, Gallo, Paolo, Gastaldi, Matteo, Granata, Tiziana, Grazian, Luisa, Iorio, Raffaele, Lombardini, Martina, Margoni, Monica, Mariotto, Sara, Matricardi, Sara, Melani, Federico, Nardocci, Nardo, Papetti, Laura, Passarini, Alice, Pisani, Francesco, Poʼ, Chiara, Puthenparampil, Marco, Ragona, Francesca, Savasta, Salvatore, Siliquini, Sabrina, Toldo, Irene, Tozzo, Alessandra, Turco, Emanuela Claudia, Varone, Antonio, Vogrig, Alberto, Zuliani, Luigi, Bugin, Samuela, Rossato, Sara, Orsini, Alessandro, Cantalupo, Gaetano, Mancardi, Maria Margherita, Ferilli, Michela Ada Noris, Foiadelli, Thomas, and Sartori, Stefano

Published
2023
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17. CASK related disorder: Epilepsy and developmental outcome

Author

Giacomini, Thea, Nuovo, Sara, Zanni, Ginevra, Mancardi, Maria Margherita, Cusmai, Raffaella, Pepi, Chiara, Bertini, Enrico, Valente, Enza Maria, Battini, Roberta, Ferrari, Annarita, Romaniello, Romina, Zucca, Claudio, Borgatti, Renato, Uccella, Sara, Severino, Mariasavina, Striano, Pasquale, Pistorio, Angela, Prato, Giulia, De Grandis, Elisa, Nobili, Lino, and Pisciotta, Livia

Published
2021
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18. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Author

Balagura, Ganna, Riva, Antonella, Marchese, Francesca, Iacomino, Michele, Madia, Francesca, Giacomini, Thea, Mancardi, Maria Margherita, Amadori, Elisabetta, Vari, Maria Stella, Salpietro, Vincenzo, Russo, Angelo, Messana, Tullio, Vignoli, Aglaia, Chiesa, Valentina, Giordano, Lucio, Accorsi, Patrizia, Caffi, Lorella, Orsini, Alessandro, Bonuccelli, Alice, Santucci, Margherita, Vecchi, Marilena, Vanadia, Francesca, Milito, Giuseppe, Fusco, Carlo, Cricchiutti, Giovanni, Carpentieri, Marilisa, Margari, Lucia, Spalice, Alberto, Beccaria, Francesca, Benfenati, Fabio, Zara, Federico, and Striano, Pasquale

Published
2020
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19. Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

Author

Accogli, Andrea, Severino, Mariasavina, Riva, Antonella, Madia, Francesca, Balagura, Ganna, Iacomino, Michele, Carlini, Barbara, Baldassari, Simona, Giacomini, Thea, Croci, Carolina, Pisciotta, Livia, Messana, Tullio, Boni, Antonella, Russo, Angelo, Bilo, Leonilda, Tonziello, Rosa, Coppola, Antonietta, Filla, Alessandro, Mecarelli, Oriano, Casalone, Rosario, Pisani, Francesco, Falsaperla, Raffaele, Marino, Silvia, Parisi, Pasquale, Ferretti, Alessandro, Elia, Maurizio, Luchetti, Anna, Milani, Donatella, Vanadia, Francesca, Silvestri, Laura, Rebessi, Erika, Parente, Eliana, Vatti, Giampaolo, Mancardi, Maria Margherita, Nobili, Lino, Capra, Valeria, Salpietro, Vincenzo, Striano, Pasquale, and Zara, Federico

Published
2020
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21. Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients

Author

Giacomini, Thea, Foiadelli, Thomas, Annovazzi, Pietro, Nosadini, Margherita, Gastaldi, Matteo, Franciotta, Diego, Panarese, Claudio, Capris, Paolo, Camicione, Paola, Lanteri, Paola, De Grandis, Elisa, Prato, Giulia, Cordani, Ramona, Nobili, Lino, Morana, Giovanni, Rossi, Andrea, Pistorio, Angela, Cellerino, Maria, Uccelli, Antonio, Sartori, Stefano, Savasta, Salvatore, and Mancardi, Maria Margherita

Published
2020
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22. Innovative LC-MS/MS method for Therapeutic Drug Monitoring of Fenfluramine and Cannabidiol in the plasma of pediatric patients with epilepsy

Author

Pigliasco, Federica, primary, Cafaro, Alessia, additional, Barco, Sebastiano, additional, Stella, Manuela, additional, Mattioli, Francesca, additional, Riva, Antonella, additional, Mancardi, Maria Margherita, additional, Lattanzi, Simona, additional, Bandettini, Roberto, additional, Striano, Pasquale, additional, and Cangemi, Giuliana, additional

Published
2024
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24. 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
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25. Epilepsy Course and Developmental Trajectories in STXBP1-DEE

Author

Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, and Striano, Pasquale

Published
2022
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27. A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus

Author

Roberti, Roberta, primary, Riva, Antonella, additional, D’Onofrio, Gianluca, additional, Giacheri, Emanuele, additional, Amadori, Elisabetta, additional, Vari, Maria Stella, additional, La Neve, Angela, additional, Vigevano, Federico, additional, Verrotti, Alberto, additional, Cordelli, Duccio Maria, additional, Romeo, Antonino, additional, Palmieri, Antonella, additional, Mancardi, Maria Margherita, additional, Caglieris, Sergio, additional, Varone, Antonio, additional, Minetti, Carlo, additional, Russo, Emilio, additional, Buratti, Silvia, additional, and Striano, Pasquale, additional

Published
2024
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29. Lesion phenotyping based on magnetic susceptibility in pediatric multiple sclerosis.

Author

Boccia, Vincenzo Daniele, Boffa, Giacomo, Lapucci, Caterina, Costagli, Mauro, Bosisio, Luca, Mancardi, Maria Margherita, Inglese, Matilde, and Cellerino, Maria

Subjects
MAGNETIC resonance imaging, MAGNETIC susceptibility, PARAMAGNETIC resonance, DISEASE duration, WHITE matter (Nerve tissue)
Abstract

Background and purpose: Pediatric multiple sclerosis (MS) displays different pathological features compared to adult MS, which can be studied in vivo by assessing tissue magnetic susceptibility with 3T‐MRI. We aimed to assess different white matter lesions (WMLs) phenotypes in pediatric MS patients using quantitative susceptibility mapping (QSM) and susceptibility mapping weighted imaging (SMWI) over 12 months. Methods: Eleven pediatric MS patients [female: 63.6%; mean ± standard deviation (SD) age and disease duration: 16.3 ± 2.2 and 2.4 ± 1.5; median (range) Expanded Disability Status Scale (EDSS) 1 (0‐2)] underwent 3 Tesla‐MRI exams and EDSS assessments at baseline and after 1 year. QSM and SMWI were obtained using 3‐dimensional (3D)‐segmented echo‐planar‐imaging with submillimetric spatial resolution. WMLs were classified according to their QSM appearance and SMWI was used to identify QSM hyperintensities ascribable to veins. Total brain volumes at baseline and follow‐up were computed using high‐resolution 3D T1‐weighted images. Results: Mean ± SD paramagnetic rim lesions (PRLs) prevalence was 7.0% ± 9.0. Fifty‐four percent (6/11) of patients exhibited at least one PRL, with one patient exhibiting ≥ 4 PRLs. All patients showed QSM‐iso‐/hypo‐intense lesions, which represented a mean ± SD of 65.8% ± 22.7 of total WMLs. QSM‐hyperintense WMLs showed a positive correlation with total brain volume reduction at follow‐up (r = 0.705; p =.02). No lesion was classified as different between baseline and follow‐up. Conclusion: Chronic compartmentalized inflammation seems to occur early in pediatric MS patients with short disease duration. A high prevalence of iso‐/hypo‐intense lesions was found, which could account for the higher remyelination potential in pediatric MS. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Author

Amadori, Elisabetta, Scala, Marcello, Cereda, Giulia Sofia, Vari, Maria Stella, Marchese, Francesca, Di Pisa, Veronica, Mancardi, Maria Margherita, Giacomini, Thea, Siri, Laura, Vercellino, Fabiana, Serino, Domenico, Orsini, Alessandro, Bonuccelli, Alice, Bagnasco, Irene, Papa, Amanda, Minetti, Carlo, Cordelli, Duccio Maria, and Striano, Pasquale

Published
2020
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34. Asynchronous combined central and peripheral demyelination (CCPD) in a girl with anti-MOG positivity: A case report and review of the literature

Author

Bosisio, Luca, primary, Gastaldi, Matteo, additional, Inglese, Matilde, additional, Rossi, Andrea, additional, Franciotta, Diego, additional, Cataldi, Matteo, additional, Leone, Carmela, additional, Giacomini, Thea, additional, Benedetti, Luana, additional, Nobili, Lino, additional, and Mancardi, Maria Margherita, additional

Published
2023
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37. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

Author

Tonin, Rodolfo, Caciotti, Anna, Procopio, Elena, Fischetto, Rita, Deodato, Federica, Mancardi, Maria Margherita, Di Rocco, Maja, Ardissone, Anna, Salviati, Alessandro, Marangi, Antonio, Strisciuglio, Pietro, Mangone, Giusi, Casini, Arianna, Ricci, Silvia, Fiumara, Agata, Parini, Rossella, Pavone, Francesco Saverio, Guerrini, Renzo, Calamai, Martino, and Morrone, Amelia

Published
2019
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38. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

Author

D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja, D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, and Nagy, Vanja

Abstract

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype–phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype–phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.

Published
2023

39. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

Author

D’Onofrio, Gianluca, primary, Accogli, Andrea, additional, Severino, Mariasavina, additional, Caliskan, Haluk, additional, Kokotović, Tomislav, additional, Blazekovic, Antonela, additional, Jercic, Kristina Gotovac, additional, Markovic, Silvana, additional, Zigman, Tamara, additional, Goran, Krnjak, additional, Barišić, Nina, additional, Duranovic, Vlasta, additional, Ban, Ana, additional, Borovecki, Fran, additional, Ramadža, Danijela Petković, additional, Barić, Ivo, additional, Fazeli, Walid, additional, Herkenrath, Peter, additional, Marini, Carla, additional, Vittorini, Roberta, additional, Gowda, Vykuntaraju, additional, Bouman, Arjan, additional, Rocca, Clarissa, additional, Alkhawaja, Issam Azmi, additional, Murtaza, Bibi Nazia, additional, Rehman, Malik Mujaddad Ur, additional, Al Alam, Chadi, additional, Nader, Gisele, additional, Mancardi, Maria Margherita, additional, Giacomini, Thea, additional, Srivastava, Siddharth, additional, Alvi, Javeria Raza, additional, Tomoum, Hoda, additional, Matricardi, Sara, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Scala, Marcello, additional, Madia, Francesca, additional, Pistorio, Angela, additional, Salpietro, Vincenzo, additional, Minetti, Carlo, additional, Rivière, Jean-Baptiste, additional, Srour, Myriam, additional, Efthymiou, Stephanie, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Vernes, Sonja Catherine, additional, Zara, Federico, additional, Striano, Pasquale, additional, and Nagy, Vanja, additional

Published
2023
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40. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

Author

Patterson, Victoria, primary, Ullah, Farid, additional, Bryant, Laura, additional, Griffin, John N., additional, Sidhu, Alpa, additional, Saliganan, Sheila, additional, Blaile, Mackenzie, additional, Saenz, Margarita S., additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Grange, Dorothy K., additional, Hu, Xuyun, additional, Mireguli, Maimaiti, additional, Luo, Yanfei, additional, Shen, Yiping, additional, Mulhern, Maureen, additional, Zackai, Elaine, additional, Ritter, Alyssa, additional, Izumi, Kosaki, additional, Hoefele, Julia, additional, Wagner, Matias, additional, Riedhammer, Korbinian M., additional, Seitz, Barbara, additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Mignot, Cyril, additional, Keren, Boris, additional, Cox, Helen, additional, Jarvis, Joanna, additional, Hempel, Maja, additional, Gibson, Cynthia Forster, additional, Tran Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Bruel, Ange-Line, additional, Sorlin, Arthur, additional, Mehta, Sarju, additional, Raymond, F. Lucy, additional, Gilmore, Kelly, additional, Powell, Bradford C., additional, Weck, Karen, additional, Li, Chumei, additional, Vulto-van Silfhout, Anneke T., additional, Giacomini, Thea, additional, Mancardi, Maria Margherita, additional, Accogli, Andrea, additional, Salpietro, Vincenzo, additional, Zara, Federico, additional, Vora, Neeta L., additional, Davis, Erica E., additional, Burdine, Rebecca, additional, and Bhoj, Elizabeth, additional

Published
2023
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41. Paediatric anti-N-methyl-d-aspartate receptor encephalitis: The first Italian multicenter case series

Author

Sartori, Stefano, Nosadini, Margherita, Cesaroni, Elisabetta, Falsaperla, Raffaele, Capovilla, Giuseppe, Beccaria, Francesca, Mancardi, Maria Margherita, Santangelo, Giuseppe, Giunta, Leandra, Boniver, Clementina, Cantalupo, Gaetano, Cappellari, Alberto, Costa, Paola, Dalla Bernardina, Bernardo, Dilena, Robertino, Natali Sora, Maria Grazia, Pelizza, Maria Federica, Pruna, Dario, Serino, Domenico, Vanadia, Francesca, Vigevano, Federico, Zamponi, Nelia, Zanus, Caterina, Toldo, Irene, and Suppiej, Agnese

Published
2015
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43. Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing

Author

Rosti, Giulia, primary, Boeri, Silvia, additional, Divizia, Maria Teresa, additional, Pisciotta, Livia, additional, Mancardi, Maria Margherita, additional, Lerone, Margherita, additional, Cerminara, Maria, additional, Servetti, Martina, additional, Spirito, Giovanni, additional, Vozzi, Diego, additional, Fontana, Marco, additional, Gustincich, Stefano, additional, Nobili, Lino, additional, Zara, Federico, additional, and Puliti, Aldamaria, additional

Published
2023
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46. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

Author

Nosadini, Margherita, primary, Eyre, Michael, additional, Giacomini, Thea, additional, Valeriani, Massimiliano, additional, Della Corte, Marida, additional, Praticò, Andrea D., additional, Annovazzi, Pietro, additional, Cordani, Ramona, additional, Cordelli, Duccio Maria, additional, Crichiutti, Giovanni, additional, Di Rosa, Gabriella, additional, Dolcemascolo, Valentina, additional, Fetta, Anna, additional, Freri, Elena, additional, Gallo, Paolo, additional, Gastaldi, Matteo, additional, Granata, Tiziana, additional, Grazian, Luisa, additional, Iorio, Raffaele, additional, Lombardini, Martina, additional, Margoni, Monica, additional, Mariotto, Sara, additional, Matricardi, Sara, additional, Melani, Federico, additional, Nardocci, Nardo, additional, Papetti, Laura, additional, Passarini, Alice, additional, Pisani, Francesco, additional, Po', Chiara, additional, Puthenparampil, Marco, additional, Ragona, Francesca, additional, Savasta, Salvatore, additional, Siliquini, Sabrina, additional, Toldo, Irene, additional, Tozzo, Alessandra, additional, Turco, Emanuela Claudia, additional, Varone, Antonio, additional, Vogrig, Alberto, additional, Zuliani, Luigi, additional, Bugin, Samuela, additional, Rossato, Sara, additional, Orsini, Alessandro, additional, Cantalupo, Gaetano, additional, Mancardi, Maria Margherita, additional, Ferilli, Michela Ada Noris, additional, Foiadelli, Thomas, additional, and Sartori, Stefano, additional

Published
2022
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47. Frontal lobe glioma and acute psychosis

Author

Nobile, Giulia, primary, Cognolato, Erica, additional, Rossi, Andrea, additional, Siri, Laura, additional, Prato, Giulia, additional, Milanaccio, Claudia, additional, Piatelli, Gianluca, additional, Consales, Alessandro, additional, Nobili, Lino, additional, Gaggero, Gabriele, additional, Garrè, Maria Luisa, additional, and Mancardi, Maria Margherita, additional

Published
2022
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50. De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum

Author

Giacomini, Thea, primary, Scala, Marcello, additional, Nobile, Giulia, additional, Severino, Mariasavina, additional, Tortora, Domenico, additional, Nobili, Lino, additional, Accogli, Andrea, additional, Torella, Annalaura, additional, Capra, Valeria, additional, Mancardi, Maria Margherita, additional, and Nigro, Vincenzo, additional

Published
2022
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