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.
Sirén
A
A
Department of Neurology, Erasme Hospital, Brussels, Belgium.
Legros
B
B
Chahine
L
L
Misson
J-P
JP
Pandolfo
M
M
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
C000657604:GLRA1 protein, human; D018009:Receptors, Glycine