Journal article

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018)

Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, Ivana A Souza, Candace T Myers, Betul Uysal, Niklas Schwarz, Maria A Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Heron, Caroline Nava, Stephanie Valence, Julien Buratti, Christina R Fagerberg, Kristina P Soerensen, Maria Kibaek Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2019