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familial startle disease


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A disorder (hyperexplexia) in which affected individuals show greatly exaggerated startle responses. Autosomal dominant and recessive forms of the disease are caused by mutation in the gene for the α1 subunit of the glycine receptor. It can also arise through mutations in the β subunit gene and in the gene for the presynaptic glycine transporter-2.

Subjects: Medicine and Health.


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