De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig, Katherine L

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [electronic resource] - American journal of human genetics 11 2018 - 666-678 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2018.09.006 doi


Adolescent
Adult
Calcium Channels, R-Type--genetics
Cation Transport Proteins--genetics
Child
Child, Preschool
Contracture--genetics
Dyskinesias--genetics
Epilepsy--genetics
Female
Genetic Variation--genetics
Humans
Infant
Male
Megalencephaly--genetics
Neurodevelopmental Disorders--genetics
Spasms, Infantile--genetics