PubMed 9600245

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kv1.1

Title: Three novel KCNA1 mutations in episodic ataxia type I families.

Authors: H Scheffer, E R Brunt, G J Mol, P van der Vlies, R P Stulp, E Verlind, G Mantel, Y N Averyanov, R M Hofstra, C H Buys

Journal, date & volume: Hum. Genet., 1998 Apr , 102, 464-6

PubMed link:

Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.