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