De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe, Steffen

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. [electronic resource] - Nature genetics Apr 2015 - 393-399 p. digital

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

1546-1718

10.1038/ng.3239 doi


Adult
Amino Acid Sequence
Child
Child, Preschool
Cohort Studies
Epilepsy--genetics
Female
Genetic Predisposition to Disease
Humans
Infant
Kv1.2 Potassium Channel--genetics
Male
Mutation
Pedigree
Spasms, Infantile--genetics
Young Adult