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

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    45 Citaten (Scopus)

    Samenvatting

    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.

    Originele taal-2English
    Pagina's (van-tot)464-466
    Aantal pagina's3
    TijdschriftHUMAN GENETICS
    Volume102
    Nummer van het tijdschrift4
    StatusPublished - apr-1998

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