Neurology
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NEUROLOGY 2006;67:137-139
© 2006 American Academy of Neurology
Brief Communications

Hyperekplexia in Kurdish families: A possible GLRA1 founder mutation

A. Sirén, MD, B. Legros, MD, L. Chahine, MSc, J. -P. Misson, MD and M. Pandolfo, MD

From the Department of Neurology (A.S., B.L., L.C., M.P.), Erasme Hospital, Brussels, Belgium; Department of Paediatrics (A.S.), Tampere University Hospital, Tampere, Finland; Folkhälsan Institute of Genetics (A.S.), Biomedicum Helsinki, Helsinki, Finland; Centre Hospitalier Regional de la Citadelle (J.-P.M.), Liege, Belgium.

Address correspondence and reprint requests to Dr. Massimo Pandolfo, Department of Neurology, ULB-Hôpital Erasme, Route de Lennik 808, 1070 Brussels, Belgium; e-mail: massimo.pandolfo{at}ulb.ac.be

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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the July 11 issue to find the title link for this article.

Supported by Belgian Funds for Scientific Research (FNRS), Fonds Erasme, and the Interuniversity Attraction Poles program P5/19 of the Belgian Federal Science Policy Office.

Disclosure: The authors report no conflicts of interest.

Received September 1, 2005. Accepted in final form March 16, 2006.






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