Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene

Brain and Development

Volumn 28, Issue 4, 2006, Pages 228-231

  Kimura, Masahiko ^a   Taketani, Takeshi ^a   Horie, Akiyoshi ^a   Isumi, Hiroshi ^b   Sejima, Hitoshi ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

^b YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Glycine receptor alpha1 subunit gene; Hyperekplexia

Indexed keywords

ARGININE; GLUTAMINE; GLYCINE RECEPTOR;

ARTICLE; CASE REPORT; CLINICAL FEATURE; EUROPE; FAMILY HISTORY; FEMALE; HIP DISLOCATION; HUMAN; INFANT; JAPAN; LABORATORY TEST; MISSENSE MUTATION; MUSCLE HYPERTONIA; POLYMERASE CHAIN REACTION; STARTLE EPILEPSY; STARTLE REFLEX; UMBILICAL HERNIA; UNITED STATES;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLYCINE; HIP DISLOCATION, CONGENITAL; HUMANS; INFANT; JAPAN; MUSCLE HYPERTONIA; MUSCLE, SKELETAL; MUTATION, MISSENSE; NEURAL INHIBITION; PEDIGREE; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; STARTLE REACTION; SYNAPTIC TRANSMISSION; SYNDROME;

EID: 33644905587     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2005.08.007     Document Type: Article

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