De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
CACNA1E基因的新生致病变异导致发育性和癫痫性脑病,伴有挛缩、巨头畸形和运动障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.09.006
Katherine L Helbig ,Robert J Lauerer ,Jacqueline C Bahr ,Ivana A Souza ,Candace T Myers ,Betül Uysal ,Niklas Schwarz ,Maria A Gandini ,Sun Huang ,Boris Keren ,Cyril Mignot ,Alexandra Afenjar ,Thierry Billette de Villemeur ,Delphine Héron ,Caroline Nava ,Stéphanie Valence ,Julien Buratti ,Christina R Fagerberg ,Kristina P Soerensen ,Maria Kibaek ,Erik-Jan Kamsteeg ,David A Koolen ,Boudewijn Gunning ,H Jurgen Schelhaas ,Michael C Kruer ,Jordana Fox ,Somayeh Bakhtiari ,Randa Jarrar ,Sergio Padilla-Lopez ,Kristin Lindstrom ,Sheng Chih Jin ,Xue Zeng ,Kaya Bilguvar ,Antigone Papavasileiou ,Qinghe Xing ,Changlian Zhu ,Katja Boysen ,Filippo Vairo ,Brendan C Lanpher ,Eric W Klee ,Jan-Mendelt Tillema ,Eric T Payne ,Margot A Cousin ,Teresa M Kruisselbrink ,Myra J Wick ,Joshua Baker ,Eric Haan ,Nicholas Smith ,Azita Sadeghpour ,Erica E Davis ,Nicholas Katsanis ,Alastair H MacLennan ,Jozef Gecz ,Saskia Biskup ,Eva Goldmann ,Lance H Rodan ,Elizabeth Kichula ,Eric Segal ,Kelly E Jackson ,Alexander Asamoah ,David Dimmock ,Julie McCarrier ,Lorenzo D Botto ,Francis Filloux ,Tatiana Tvrdik ,Gregory D Cascino ,Sherry Klingerman ,Catherine Neumann ,Raymond Wang ,Jessie C Jacobsen ,Melinda A Nolan ,Russell G Snell ,Klaus Lehnert ,Lynette G Sadleir ,Britt-Marie Anderlid ,Malin Kvarnung ,Renzo Guerrini ,Michael J Friez ,Michael J Lyons ,Jennifer Leonhard ,Gabriel Kringlen ,Kari Casas ,Christelle M El Achkar ,Lacey A Smith ,Alexander Rotenberg ,Annapurna Poduri ,Alba Sanchis-Juan ,Keren J Carss ,Julia Rankin ,Adam Zeman ,F Lucy Raymond ,Moira Blyth ,Bronwyn Kerr ,Karla Ruiz ,Jill Urquhart ,Imelda Hughes ,Siddharth Banka ,Ingrid E Scheffer ,Ingo Helbig ,Gerald W Zamponi ,Holger Lerche ,Heather C Mefford