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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Child, Preschool
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DNA Mutational Analysis / methods
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Exons
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Family Health*
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Female
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Genetic Predisposition to Disease
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Humans
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Male
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Mutation*
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Pedigree
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Receptors, Glycine / genetics*
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Stiff-Person Syndrome / genetics*
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Turkey
Substances
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GLRA1 protein, human
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Receptors, Glycine