• Citer

Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.

par Sirén, A;Legros, Benjamin ;Chahine, Lyne ;Misson, J-P;Pandolfo, Massimo
Référence Neurology, 67, 1, page (137-139)
Publication Publié, 2006-07

Article révisé par les pairs

• Détails
• Contenu

Résumé :

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.