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

We report two Japanese patients from two families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. The clinical course of both patients was typical for hyperekplexia, characterized by neonatal hypertonia and exaggerated startle response, and which improv...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 2006-05, Vol.28 (4), p.228-231
Hauptverfasser:	Kimura, Masahiko, Taketani, Takeshi, Horie, Akiyoshi, Isumi, Hiroshi, Sejima, Hitoshi, Yamaguchi, Seiji
Format:	Artikel
Sprache:	eng
Schlagworte:	Child, Preschool DNA Mutational Analysis Female Genetic Predisposition to Disease - genetics Glycine - metabolism Glycine receptor alpha1 subunit gene Hip Dislocation, Congenital - complications Humans Hyperekplexia Infant Japan Muscle Hypertonia - genetics Muscle Hypertonia - metabolism Muscle Hypertonia - physiopathology Muscle, Skeletal - innervation Muscle, Skeletal - physiopathology Mutation, Missense - genetics Neural Inhibition - genetics Pedigree Receptors, Glycine - genetics Reflex, Abnormal - genetics Reflex, Startle - genetics Synaptic Transmission - genetics Syndrome
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