A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
Forsyth
Rob J
RJ
Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne NE1 4LP, and Paediatric Neurology Department, St George's Hospital, London, United Kingdom. r.j.forsyth@newcastle.ac.uk
Gika
Artemis D
AD
Ginjaar
Ieke
I
Tijssen
Marina A J
MA
D002648:Child; D002675:Child, Preschool; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009069:Movement Disorders / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*; D014443:Tyrosine / Q000235:genetics
C000657604:GLRA1 protein, human; D018009:Receptors, Glycine; D014443:Tyrosine; D003545:Cysteine