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    Neurology. 2006 Jul 11;67(1):137-9.

    Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.

    Sirén A, Legros B, Chahine L, Misson JP, Pandolfo M.

    Source

    Department of Neurology, Erasme Hospital, Brussels, Belgium.

    Abstract

    Autosomal recessive hyperekplexia is due to loss-of-function mutations in the GLRA1 gene. The authors describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder effect in Kurds from Turkey. Hyperekplexia may be misdiagnosed as epilepsy.

    PMID:
    16832093
    [PubMed - indexed for MEDLINE]

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