De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Publication/Presentation Date
3-7-2019
Volume
104
Issue
3
First Page
562
Last Page
562
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. (2019). De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American journal of human genetics, 104(3), 562. https://doi.org/10.1016/j.ajhg.2019.02.015
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
30849329
Department(s)
Department of Pediatrics
Document Type
Article
COinS