Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Congenital hyperekplexia is a rare, potentially treatable neuromotor disorder. Three major genes of effect are known, and all three affect glycinergic neurotransmission. Two genes encode for subunits of the postsynaptic inhibitory glycine receptor, GLRA1 encoding the α1 subunit and GLRB encoding the β subunit. The third, SLC6A5, encodes the cognate presynaptic glycine transporter 2. Ninety-seve...
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ژورنال
عنوان ژورنال: Brain
سال: 2013
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awt207