• Neurology · Jul 2006

    Comparative Study

    Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.

    • A Sirén, B Legros, L Chahine, J-P Misson, and M Pandolfo.
    • Department of Neurology, Erasme Hospital, Brussels, Belgium.
    • Neurology. 2006 Jul 11;67(1):137-9.

    AbstractAutosomal 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.

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