Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

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The American journal of human genetics - ISSN 0002-9297-111:6 (2024) p. 1184-1205
Auteur(s)
    Fang Yang, Anais Begemann, Nadine Reichhart, Akvile Haeckel, Katharina Steindl, Eyk Schellenberger, Ronja Fini Sturm, Magalie Barth, Sissy Bassani, Paranchai Boonsawat, Thomas Courtin, Bruno Delobel, Boudewijn Gunning, Katia Hardies, Mélanie Jennesson, Louis Legoff, Tarja Linnankivi, Clément Prouteau, Noor Smal, Marta Spodenkiewicz, Sandra P. Toelle, Koen Van Gassen, Wim Van Paesschen, Nienke Verbeek, Alban Ziegler, Markus Zweier, Anselm H.C. Horn, Heinrich Sticht, Holger Lerche, Sarah Weckhuysen, Olaf Strauß, Anita Rauch

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

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European journal of human genetics - ISSN 1018-4813- (2024) p. 1-10
Auteur(s)
    Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M.J.M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, Frank Kooy, Marije Meuwissen, Laura M. Bryant

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

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Neurotherapeutics - ISSN 1878-7479-21:1 (2024) p. 1-9
Auteur(s)
    Allan Bayat, Stefano Iavarone, Francesco Miceli, Anne V. Jakobsen, Katrine M. Johannesen, Marina Nikanorova, Rafal Ploski, Krystyna Szymanska, Robert Flamini, Edward C. Cooper, Sarah Weckhuysen, Maurizio Taglialatela, Rikke S. Møller

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies

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Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1046-1059
Auteur(s)
    Declan Gallagher, Eduardo Perez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Moller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

Developmental epileptic encephalopathy in DLG4-related synaptopathy

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Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1029-1045
Auteur(s)
    Benedetta Kassabian, Amanda M. Levy, Elena Gardella, Angel Aledo-Serrano, Amitha L. Ananth, Alejandro J. Brea-Fernandez, Roseline Caumes, Nicolas Chatron, Alice Dainelli, Matthias De Wachter, Anne-Sophie Denomme-Pichon, Thomas J. Dye, Elisa Fazzi, Roxanne Felt, Alberto Fernandez-Jaen, Montse Fernandez-Prieto, Emily Gantz, Piotr Gasperowicz, Antonio Gil-Nagel, David Gomez-Andres, Hansel M. Greiner, Renzo Guerrini, Maria K. Haanpaeae, Minttu Helin, Juliane Hoyer, Anna C. E. Hurst, Staci Kallish, Shefali N. Karkare, Amjad Khan, Lotte Kleinendorst, Johannes Koch, Sanjeev V. Kothare, Suzanna M. Koudijs, Lieven Lagae, Phillis Lakeman, Kathleen A. Leppig, Gaetan Lesca, Diego Lopergolo, Laina Lusk, Alex Mackenzie, Davide Mei, Rikke S. Moller, Elaine M. Pereira, Konrad Platzer, Chloe Quelin, Anya Revah-Politi, Sylvain Rheims, Agusti Rodriguez-Palmero, Sarah Weckhuysen, Guido Rubboli