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  • Title: Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
    Author: Coto E, Armenta D, Espinosa R, Argente J, Castro MG, Alvarez V.
    Journal: Mov Disord; 2005 Dec; 20(12):1626-9. PubMed ID: 16078201.
    Abstract:
    Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the alpha1 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.
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