De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
scientific article published on 18 October 2018
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author: Robert J Lauerer, Julien Buratti, Jozef Gécz, Alba Sanchis-Juan, Adam Zeman, Siddharth Banka, Ingrid Scheffer, Filippo Vairo, Betül Uysal, Renzo Guerrini, Boudewijn Gunning, Lynette Sadleir, Annapurna Poduri, Heather C. Mefford, Delphine Héron, Alexandra Afenjar, Jan-Mendelt Tillema, Maria Kibaek, Task Force for Neonatal Genomics, Tatiana Tvrdik, Sherry Klingerman, Elizabeth Kichula, Jennifer Leonhard, Deciphering Developmental Disorders Study, Melinda A Nolan, Kari Casas, Julie McCarrier, Antigone Papavasileiou, Eva Goldmann, Sergio Padilla-Lopez, Eric W Klee, Francis Filloux, Kristina P Soerensen, Katherine L Helbig, Somayeh Bakhtiari, Katja Boysen, Boris Keren, Myra J Wick, Gabriel Kringlen, Michael J Friez, Candace T Myers, Caroline Nava, Moira Blyth, H Jurgen Schelhaas
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