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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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