Ontology highlight
ABSTRACT:
SUBMITTER: Park J
PROVIDER: S-EPMC6649617 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Annals of clinical and translational neurology 20190607 7
A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence a ...[more]