De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Publication/Presentation Date
11-1-2018
Abstract
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α
Volume
103
Issue
5
First Page
666
Last Page
678
ISSN
1537-6605
Published In/Presented At
Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., Schwarz, N., Gandini, M. A., Huang, S., Keren, B., Mignot, C., Afenjar, A., Billette de Villemeur, T., Héron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C. R., Soerensen, K. P., Kibaek, M., … Mefford, H. C. (2018). De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American journal of human genetics, 103(5), 666–678. https://doi.org/10.1016/j.ajhg.2018.09.006
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
30343943
Department(s)
Department of Pediatrics
Document Type
Article