Three novel KCNA1 mutations in episodic ataxia type I families.

Article Details

Citation

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH

Three novel KCNA1 mutations in episodic ataxia type I families.

Hum Genet. 1998 Apr;102(4):464-6.

PubMed ID
9600245 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Potassium voltage-gated channel subfamily A member 1Q09470Details