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Letter

Nature Genetics 38, 801–806 (1 July 2006) | doi:10.1038/ng1814

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Mark I Rees , Kirsten Harvey , Brian R Pearce , Seo-Kyung Chung , Ian C Duguid , Philip Thomas , Sarah Beatty , Gail E Graham , Linlea Armstrong , Rita Shiang , Kim J Abbott , Sameer M Zuberi , John B P Stephenson , Michael J Owen , Marina A J Tijssen , Arn M J M van den Maagdenberg , Trevor G Smart , St|[eacute]|phane Supplisson & Robert J Harvey

Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutations in the gene encoding the inhibitory glycine receptor (GlyR) α1 subunit (GLRA1). Genetic heterogeneity has been confirmed in rare sporadic cases, with mutations affecting other postsynaptic glycinergic proteins including the GlyR β subunit (GLRB), gephyrin (GPHN) and RhoGEF collybistin (ARHGEF9).