PubMed:16832093 JSONTXT 3 Projects

Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation. 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.