title: Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
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.
authors.affiliation: Genética Molecular, Hospital Central Asturias, Oviedo, Spain. eliecer.coto@sespa.princast.es
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
authors.forename: Daniel
authors.initials: D
authors.lastname: Armenta
authors.forename: Raúl
authors.initials: R
authors.lastname: Espinosa
authors.forename: Joaquín
authors.initials: J
authors.lastname: Argente
authors.forename: Mónica G
authors.initials: MG
authors.lastname: Castro
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006639:Histidine / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D018009:Receptors, Glycine / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics*
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine; D006639:Histidine; D001120:Arginine