Three novel KCNA1 mutations in episodic ataxia type I families

H Scheffer*, ERP Brunt, GJJ Mol, P van der Vlies, RP Stulp, E Verlind, G Mantel, YN Averyanov, RMW Hofstra, CHCM Buys

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    45 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)464-466
    Number of pages3
    JournalHUMAN GENETICS
    Volume102
    Issue number4
    Publication statusPublished - Apr-1998

    Keywords

    • CHANNEL GENE

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