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1. De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

Author

Riva, Martina, Ferreira, Sofia, Hayashi, Kotaro, Saillour, Yoann, Medvedeva, Vera P., Honda, Takao, Hayashi, Kanehiro, Altersitz, Claire, Albadri, Shahad, Rosello, Marion, Dang, Julie, Serafini, Malo, Causeret, Frederic, Henry, Olivia J., Roux, Charles-Joris, Bellesme, Celine, Freri, Elena, Josifova, Dragana, Parrini, Elena, Guerrini, Renzo, Del Bene, Filippo, Nakajima, Kazunori, Bahi-Buisson, Nadia, and Pierani, Alessandra

Subjects
Diagnosis, Care and treatment, Genetic aspects, Health aspects, Cell migration -- Health aspects -- Genetic aspects, Genetic variation -- Health aspects, Nervous system diseases -- Diagnosis -- Care and treatment -- Genetic aspects
Abstract

Introduction The neocortex is composed of 6 layers that are built during embryonic development through highly orchestrated processes of successive generation of cohorts of glutamatergic neurons in the proliferative zones [...], Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical abnormalities. However, the functional effects of RELN variants remain unknown. We identified inherited and de novo RELN missense variants in heterozygous patients with neuronal migration disorders (NMDs) as diverse as pachygyria and polymicrogyria. We investigated in culture and in the developing mouse cerebral cortex how different variants impacted RELN function. Polymicrogyria-associated variants behaved as gain-of-function, showing an enhanced ability to induce neuronal aggregation, while those linked to pachygyria behaved as loss-of-function, leading to defective neuronal aggregation/migration. The pachygyria-associated de novo heterozygous RELN variants acted as dominant-negative by preventing WT RELN secretion in culture, animal models, and patients, thereby causing dominant NMDs. We demonstrated how mutant RELN proteins in vitro and in vivo predict cortical malformation phenotypes, providing valuable insights into the pathogenesis of such disorders.

Published
2024
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3. 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
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4. 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
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5. 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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6. 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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7. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Author

Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R.M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P.C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T.R.M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S., and Scheffer, Ingrid E.

Published
2021
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8. Deciphering the premature mortality in PIGA-CDG – An untold story

Author

Bayat, Allan, Kløvgaard, Marius, Johannesen, Katrine M., Barakat, Tahsin Stefan, Kievit, Anneke, Montomoli, Martino, Parrini, Elena, Pietrafusa, Nicola, Schelhaas, Jurgen, van Slegtenhorst, Marjon, Miya, Kazushi, Guerrini, Renzo, Tranebjærg, Lisbeth, Tümer, Zeynep, Rubboli, Guido, and Møller, Rikke S.

Published
2021
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12. 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

13. International consensus recommendations on the diagnostic work-up for malformations of cortical development

Author

Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., and Di Donato, Nataliya

Published
2020
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16. 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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17. Somatic Mutations in Cerebral Cortical Malformations

Author

Jamuar, Saumya S, Lam, Anh-Thu N, Kircher, Martin, D'Gama, Alissa M, Wang, Jian, Barry, Brenda J, Zhang, Xiaochang, Hill, Robert Sean, Partlow, Jennifer N, Rozzo, Aldo, Servattalab, Sarah, Mehta, Bhaven K, Topcu, Meral, Amrom, Dina, Andermann, Eva, Dan, Bernard, Parrini, Elena, Guerrini, Renzo, Scheffer, Ingrid E, Berkovic, Samuel F, Leventer, Richard J, Shen, Yiping, Wu, Bai Lin, Barkovich, A James, Sahin, Mustafa, Chang, Bernard S, Bamshad, Michael, Nickerson, Deborah A, Shendure, Jay, Poduri, Annapurna, Yu, Timothy W, and Walsh, Christopher A

Subjects
Genetics, Intellectual and Developmental Disabilities (IDD), Mental Health, Human Genome, Genetic Testing, Neurosciences, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Cerebral Cortex, Classical Lissencephalies and Subcortical Band Heterotopias, DNA Mutational Analysis, Humans, Lissencephaly, Magnetic Resonance Imaging, Malformations of Cortical Development, Mutation, Periventricular Nodular Heterotopia, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundAlthough there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated.MethodsUsing a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing.ResultsValidated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria.ConclusionsTargeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.).

Published
2014

19. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Author

Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M.Elizabeth, Ledbetter, David H., Guerrini, Renzo, and Dobyns, William B.

Published
2018
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21. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

Author

Pisano, Tiziana, Barkovich, A James, Leventer, Richard J, Squier, Waney, Scheffer, Ingrid E, Parrini, Elena, Blaser, Susan, Marini, Carla, Robertson, Stephen, Tortorella, Gaetano, Rosenow, Felix, Thomas, Pierre, McGillivray, George, Andermann, Eva, Andermann, Frederick, Berkovic, Samuel F, Dobyns, William B, and Guerrini, Renzo

Subjects
Brain Disorders, Neurosciences, Pediatric, Clinical Research, Neurological, Adolescent, Adult, Agenesis of Corpus Callosum, Brain, Cerebellum, Child, Child, Preschool, Epilepsy, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Periventricular Nodular Heterotopia, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex.MethodsObservational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain.ResultsThere were 28 females and 22 males. All were sporadic with the exception of an affected mother and son. Epilepsy occurred in 62%, cerebellar signs in 56%, cognitive impairment in 56%, and autism in 12%. Seventy percent were referred within the 3rd year of life. Imaging revealed a normal cerebral cortex in 76% and abnormal cortical folding in 24%. In all patients the hippocampi were under-rotated and in 10% they merged with the heterotopia. Cerebellar dysgenesis was observed in 84% and a hypoplastic corpus callosum in 60%. There was no gender bias or uneven gender distribution of clinical and anatomic severity. No mutations of FLNA occurred in 33 individuals examined. Heterotopia in the fetal brain revealed cytoarchitectonic characteristics similar to those associated with FLNA mutations; cortical pathology was not typical of polymicrogyria. Cerebellar involvement was more severe and the hippocampi appeared simple and under-rotated.ConclusionsThis series delineates a malformation complex in which PNH in the trigones and occipito-temporal horns is associated with hippocampal, corpus callosum, and cerebellar dysgenesis. This subtype of PNH is distinct from classic PNH caused by FLNA mutations.

Published
2012

25. List of contributors

Author

Ah Mew, Nicholas, primary, Akamatsu, Wado, additional, Akman, Hasan Orhan, additional, AlHakeem, Afnan, additional, Aoyama, Koji, additional, Artuch, Rafael, additional, Beck, Michael, additional, Bennett, C. Frank, additional, Berry, Gerard T., additional, Bissell, D. Montgomery, additional, Canine, Brenda, additional, Caskey, C. Thomas, additional, Casy, Widler, additional, Chinnery, Patrick F., additional, Chuang, David T., additional, Cook, Emily K., additional, Cox, Rody P., additional, De Jager, Philip L., additional, Demirbas, Didem, additional, Desnick, Robert J., additional, DiMauro, Salvatore, additional, Eichler, Florian S., additional, Elger, Bernice, additional, Emmanuele, Valentina, additional, Evans, Patricia, additional, Fogel, Brent L., additional, García-Cazorla, Àngels, additional, Gellera, Cinzia, additional, Golla, Sailaja, additional, Goodspeed, Kimberly, additional, Gospe, Sidney M., additional, Gray, Steven J., additional, Gropman, Andrea L., additional, Gu, Yian, additional, Guerrini, Renzo, additional, Gunn, Teresa M., additional, Hadziahmetovic, Una, additional, Haffner, Darrah, additional, Hagerman, R.J., additional, Harel, Tamar, additional, Head, Elizabeth, additional, Horvath, Rita, additional, Hosoi, Yasushi, additional, Hou, Ying-Chen Claire, additional, Hsiao, Jane, additional, Ishiura, Hiroyuki, additional, Jack, Clifford R., additional, Jakkamsetti, Vikram, additional, Johnson†, William G., additional, Jotterand, Fabrice, additional, Kane, John P., additional, Khorkova, Olga, additional, Kinoshita, Chisato, additional, Klompe, Sanne E., additional, Koehl, Lisa M., additional, Kruer, Michael C., additional, Kukull, Walter A., additional, Lane, Roger M., additional, Lee, Joseph H., additional, Leigh, M.J., additional, Ling, Qinglan, additional, Lupski, James R., additional, Luzi, Paola, additional, Ma, Qian, additional, Maegawa, Gustavo H.B., additional, Malloy, Mary J., additional, Margolis, Seth S., additional, Marin-Valencia, Isaac, additional, Mastrianni, James A., additional, Matalon, Dena, additional, Matalon, Reuben, additional, Matalon Rd, Kimberlee Michals, additional, Mathews, Jennifer M., additional, Mayeux, Richard, additional, McCurdy, Jennifer, additional, Meltzer, Meira R., additional, Menkes†, John H., additional, Miron, Justin, additional, Mitsui, Jun, additional, Miyajima, Hiroaki, additional, Monteggia, Lisa M., additional, Morris, Mary Ann, additional, Moser†, Hugo W., additional, Murray, Melissa E., additional, Nakaki, Toshio, additional, Nilsson, Nathalie, additional, Nishino, Ichizo, additional, Nordlie, Sandra M.H., additional, Nussbaum, Robert L., additional, Nyhan, William L., additional, Okano, Hideyuki, additional, Padilla-Lopez, Sergio, additional, Parrini, Elena, additional, Pascual, Juan M., additional, Pastores, Gregory M., additional, Patel, Shailendra B., additional, Patterson, Marc C., additional, Pena, Izabella A., additional, Picard, Cynthia, additional, Poirier, Judes, additional, Posey, Jennifer E., additional, Raymond, Gerald V., additional, Renthal, William, additional, Rosenblatt, David S., additional, Rossignol, Francis, additional, Salen, Gerald, additional, Sandhoff, Konrad, additional, Schiffmann, Raphael, additional, Schindler, Detlev, additional, Schmitt, Frederick A., additional, Schneider, Susanne A., additional, Schon, Eric A., additional, Schuchman, Edward H., additional, Seashore, Margretta Reed, additional, Shaffo, Frances C., additional, Shevell, Michael, additional, Sinnett, Sarah E., additional, Srour, Myriam, additional, Sternberg, Samuel H., additional, Sugie, Kazuma, additional, Szabla, Kristen L., additional, Taroni, Franco, additional, Tedeschi Dauar, Marina, additional, Tsuji, Shoji, additional, Uhlmann, Wendy R., additional, van Karnebeek, Clara, additional, Van Pelt, Kathryn L., additional, Vemuri, Prashanthi, additional, Venditti, Charles P., additional, Wahlestedt, Claes, additional, Wang, Bruce, additional, Watkins, David, additional, Wenger, David A., additional, Williams, Charles A., additional, Wilson, Golder N., additional, Wolf, Barry, additional, Wynn, R. Max, additional, and Yu, Hung-Chun, additional

Published
2020
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27. Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.

Author

Ferrera, Giulia, Ricci, Emilia, Peron, Angela, Parrini, Elena, Vignoli, Aglai, and Canevini, Maria Paola

Subjects
EPILEPSY, CANNABIDIOL, PEOPLE with epilepsy, AUTISM spectrum disorders, SOCIAL skills, INTELLECTUAL disabilities
Abstract

KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy. [ABSTRACT FROM AUTHOR]

Published
2024
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29. CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

Author

Specchio, Nicola, primary, Trivisano, Marina, additional, Lenge, Matteo, additional, Ferretti, Alessandro, additional, Mei, Davide, additional, Parrini, Elena, additional, Napolitano, Antonio, additional, Rossi-Espagnet, Camilla, additional, Talenti, Giacomo, additional, Longo, Daniela, additional, Proietti, Jacopo, additional, Ragona, Francesca, additional, Freri, Elena, additional, Solazzi, Roberta, additional, Granata, Tiziana, additional, Darra, Francesca, additional, Bernardina, Bernardo Dalla, additional, Vigevano, Federico, additional, and Guerrini, Renzo, additional

Published
2023
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30. Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.

Author

Panza, Norman, Bianchini, Claudia, Cetica, Valentina, Balestrini, Simona, Barba, Carmen, Ferrari, Anna Rita, Mei, Davide, Parmeggiani, Lucio, Parrini, Elena, and Guerrini, Renzo

Subjects
TEMPORAL lobe epilepsy, FOCAL cortical dysplasia, TEMPORAL lobe, CHILDHOOD epilepsy, SEIZURES (Medicine), DYSPLASIA, WHITE matter (Nerve tissue), DEEP brain stimulation
Abstract

Biallelic CNTNAP2 variants have been associated with Pitt‐Hopkins‐like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic CNTNAP2 variants. Initial reports highlighted intractable focal seizures and the failure of epilepsy surgery in children, but subsequent reports did not expand on this aspect. In all our patients (n = 7), brain MRI showed bilateral temporal gray/white matter blurring with white matter high signal intensity, more obvious on the T2‐FLAIR sequences, consistent with bilateral temporal lobe dysplasia. All patients had focal seizures with temporal lobe onset and semiology, which were recorded on EEG in five, showing bilateral independent temporal onset in four. Epilepsy was responsive to anti‐seizure medications in two patients (2/7, 28.5%), and pharmaco‐resistant in five (5/7, 71.5%). Splice‐site variants identified in five patients (5/7, 71.5%) were the most common mutational finding. Our observation expands the phenotypic and genetic spectrum of biallelic CNTNAP2 alterations focusing on the neuroimaging features and provides evidence for an elective bilateral anatomoelectroclinical involvement of the temporal lobes in the associated epilepsy, with relevant implications on clinical management. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Author

Mirzaa, Ghayda M, Conti, Valerio, Timms, Andrew E, Smyser, Christopher D, Ahmed, Sarah, Carter, Melissa, Barnett, Sarah, Hufnagel, Robert B, Goldstein, Amy, Narumi-Kishimoto, Yoko, Olds, Carissa, Collins, Sarah, Johnston, Kathreen, Deleuze, Jean-François, Nitschké, Patrick, Friend, Kathryn, Harris, Catharine, Goetsch, Allison, Martin, Beth, Boyle, Evan August, Parrini, Elena, Mei, Davide, Tattini, Lorenzo, Slavotinek, Anne, Blair, Ed, Barnett, Christopher, Shendure, Jay, Chelly, Jamel, Dobyns, William B, and Guerrini, Renzo

Published
2015
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34. List of Contributors

Author

Abbott, M.A., Akamatsu, Wado, Akman, Hasan Orhan, AlHakeem, Afnan, Ali, Sheliza, AlMutiri, Rowim, Aoyama, Koji, Artuch, Rafael, Aumont-Rodrigue, Gabriel, Baril, Andrée-Ann, Barshop, Bruce A., Beck, Michael, Bennett, C. Frank, Berry, Gerard T., Boitnott, Andrea, Calame, Daniel G., Canine, Brenda, Casy, Widler, Chinnery, Patrick F., Chuang, David T., De Jager, Philip L., Demirbas, Didem, Desnick, Robert J., DiMauro, Salvatore, d’Azzo, A., Eichler, Florian S., Elmquist, Joel K., Emmanuele, Valentina, Engelen, Marc, Esteves, S., Evans, Patricia, Fogel, Brent L., Fremuth, L.E., Gallagher, J., García-Cazorla, Àngels, Garza, Irvin T., Glueck, Amanda C., Golla, Sailaja, Goodarzi, Mohammad, Goodspeed, Kimberly, Gray, Steven J., Gray-Edwards, H., Gropman, Andrea L., Guerrini, Renzo, Guldner, Ian H., Gunn, Teresa M., Haffner, Darrah, Hagerman, R.J., Harel, Tamar, Harp, Jordan P., Head, Elizabeth, Horvath, Rita, Ishii, Makoto, Ishiura, Hiroyuki, Jakkamsetti, Vikram, Jalazo, Elizabeth R., Khorkova, Olga, Kinoshita, Chisato, Kukull, Walter A., Lane, Roger, Latham, Stephen R., Leigh, M.J., Ling, Qinglan, Lupski, James R., Luzi, Paola, Ma, Qian, Maegawa, Gustavo H.B., Marin-Valencia, Isaac, Mastrianni, James A., Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben, Mathews, Jennifer M., Megagiannis, Platon, Mehta, Nikita, Meltzer, Meira R., Mengel, Eugen, Mew, Nicholas Ah, Millar Vernetti, Patricio, Mitsui, Jun, Monteggia, Lisa M., Morris, Mary Ann, Moser, Hugo W., Murray, Melissa E., Nakaki, Toshio, Nishino, Ichizo, Noble, Denis, Nussbaum, Robert L., Nyhan, William L., Okano, Hideyuki, Parrini, Elena, Pascual, Juan M., Pastores, Gregory M., Patterson, Marc C., Piazza, Michelle K., Picard, Cynthia, Poirier, Judes, Pomerantz, Daniel J., Posey, Jennifer E., Raymond, Gerald V., Renthal, William, Rossignol, Francis, Rouleau, Guy A., Saez-Calveras, Nil, Sandhoff, Konrad, Schiffmann, Raphael, Schindler, Detlev, Schmitt, Frederick A., Schon, Eric A., Schuchman, Edward H., Seashore, Margretta Reed, Sena-Esteves, M., Shaffo, Frances C., Shevell, Michael, Shishodia, Gauri, Sinnett, Sarah E., Srour, Myriam, Stevens, Hannah A., Sugie, Kazuma, Taylor, Alexa, Tedeschi Dauar, Marina, Thinwa, Josephine, Tifft, C., Tsuji, Shoji, Uhlmann, Wendy R., Van Pelt, Kathryn L., Vemuri, Prashanthi, Vernino, Steven, Wahlestedt, Claes, Wang, Bruce, Weesner, J.A., Wenger, David A., Williams, Kevin W., Wolf, Nicole I., Wolfe, John H., Wynn, R. Max, Wyss-Coray, Tony, Yingling, N., and Zhou, Yang

Published
2025
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39. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Author

Syrbe, Steffen, Harms, Frederike L., Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L., Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O., Hoffmann, Georg F., Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, Christoph G., Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E., Møller, Rikke S., Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B., Battaglia, Domenica, Lemke, Johannes R., Kutsche, Kerstin, and Guerrini, Renzo

Published
2017
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43. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

Author

Di Donato, Nataliya, primary, Guerrini, Renzo, additional, Billington, Charles J, additional, Barkovich, A James, additional, Dinkel, Philine, additional, Freri, Elena, additional, Heide, Michael, additional, Gershon, Elliot S, additional, Gertler, Tracy S, additional, Hopkin, Robert J, additional, Jacob, Suma, additional, Keedy, Sarah K, additional, Kooshavar, Daniz, additional, Lockhart, Paul J, additional, Lohmann, Dietmar R, additional, Mahmoud, Iman G, additional, Parrini, Elena, additional, Schrock, Evelin, additional, Severi, Giulia, additional, Timms, Andrew E, additional, Webster, Richard I, additional, Willis, Mary J H, additional, Zaki, Maha S, additional, Gleeson, Joseph G, additional, Leventer, Richard J, additional, and Dobyns, William B, additional

Published
2022
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45. Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

Author

Parrini, Elena, Marini, Carla, Mei, Davide, Galuppi, Anna, Cellini, Elena, Pucatti, Daniela, Chiti, Laura, Rutigliano, Domenico, Bianchini, Claudia, Virdò, Simona, De Vita, Dalila, Bigoni, Stefania, Barba, Carmen, Mari, Francesco, Montomoli, Martino, Pisano, Tiziana, Rosati, Anna, and Guerrini, Renzo

Published
2017
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47. Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.

Author

Zago, Silvia, Silvestri, Evelina, Arcangeli, Tiziana, Calisesi, Marina, Romeo, Chiara, Parmeggiani, Giulia, Parrini, Elena, Cetica, Valentina, Guerrini, Renzo, Palicelli, Andrea, and Bonasoni, Maria Paola

Subjects
FETAL presentation, MISSENSE mutation, FACIOSCAPULOHUMERAL muscular dystrophy, NUCLEOTIDE sequencing, AGENESIS of corpus callosum, ABORTION
Abstract

Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LARGE1, and FKRP. Case report: We present a fetus with WWS showing at ultrasound severe triventricular hydrocephalus. Pregnancy was legally terminated at 21 weeks +2 days of gestation. In vivo and postmortem magnetic resonance revealed corpus callosum agenesis and cerebellar hypoplasia. Cobblestone lissencephaly was observed at post-mortem. Next generation sequencing (NGS) of 193 genes, performed on fetal DNA extracted from amniocytes, detected two heterozygous mutations in the POMT2 gene. The c.1238G > C p.(Arg413Pro) mutation was paternally inherited and is known to be pathogenic. The c.553G > A p.(Gly185Arg) mutation was maternally inherited and has not been previously described. Conclusion: Compound heterozygous mutations in the POMT2 gene caused a severe cerebral fetal phenotype diagnosed prenatally at midgestation allowing therapeutic pregnancy termination. [ABSTRACT FROM AUTHOR]

Published
2023
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50. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Author

Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, and Chelly, Jamel

Published
2013
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