Ontology highlight
ABSTRACT:
SUBMITTER: Imbrici P
PROVIDER: S-EPMC7829709 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Imbrici Paola P Accogli Andrea A Blunck Rikard R Altamura Concetta C Iacomino Michele M D'adamo Maria Cristina MC Allegri Anna A Pedemonte Marina M Brolatti Noemi N Vari Stella S Cataldi Matteo M Capra Valeria V Gustincich Stefano S Zara Federico F Desaphy Jean-Francois JF Fiorillo Chiara C
Biomedicines 20210114 1
The <i>KCNA1</i> gene encodes the α subunit of the voltage-gated Kv1.1 potassium channel that critically regulates neuronal excitability in the central and peripheral nervous systems. Mutations in <i>KCNA1</i> have been classically associated with episodic ataxia type 1 (EA1), a movement disorder triggered by physical and emotional stress. Additional features variably reported in recent years include epilepsy, myokymia, migraine, paroxysmal dyskinesia, hyperthermia, hypomagnesemia, and cataplexy ...[more]