Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
Copyright policy )Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
AbstractHyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the α1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother has periodic limb movements during sleep. This suggests that Hys‐100 could exhibit incomplete penetrance, but was linked to a severe classical form of hyperekplexia in homozygous. © 2005 Movement Disorder Society
- Hospital Del Mar Spain
Family Health, Male, Receptors, Glycine, Adolescent, Reflex, Abnormal, DNA Mutational Analysis, Mutation, Humans, Female, Histidine, Arginine
Family Health, Male, Receptors, Glycine, Adolescent, Reflex, Abnormal, DNA Mutational Analysis, Mutation, Humans, Female, Histidine, Arginine
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