Three novel KCNA1 mutations in episodic ataxia type I families

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

doi:10.1007/s004390050722

Three novel KCNA1 mutations in episodic ataxia type I families

Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722.

Authors

H Scheffer¹, 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

Affiliation

¹ Department of Medical Genetics, University of Groningen, The Netherlands. h.scheffer@med.rug.nl

PMID: 9600245
DOI: 10.1007/s004390050722

Abstract

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.

MeSH terms

Amino Acid Substitution / genetics
Ataxia / genetics*
Chromosomes, Human, Pair 12 / genetics
Female
Heterozygote
Humans
Kv1.1 Potassium Channel
Male
Pedigree
Point Mutation / genetics*
Potassium Channels / genetics*
Potassium Channels, Voltage-Gated*

Substances

KCNA1 protein, human
Potassium Channels
Potassium Channels, Voltage-Gated
Kv1.1 Potassium Channel