title: Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.
abstract: 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.
authors.affiliation: Department of Neurology, Erasme Hospital, Brussels, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Sirén
authors.forename: B
authors.initials: B
authors.lastname: Legros
authors.forename: L
authors.initials: L
authors.lastname: Chahine
authors.forename: J-P
authors.initials: JP
authors.lastname: Misson
authors.forename: M
authors.initials: M
authors.lastname: Pandolfo
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018009:Receptors, Glycine / Q000235:genetics*; D016750:Stiff-Person Syndrome / Q000235:genetics*; D014421:Turkey
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine