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The genetics of hyperekplexia more than startle

, : The genetics of hyperekplexia more than startle. Trends In Genetics: 9, 439-447

Hyperekplexia is characterised by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis of this disorder has revealed mutations in genes for several postsynaptic proteins involved in glycinergic neurotransmission, including the glycine receptor (GlyR) alpha 1 and beta subunits, gephyrin and collybistin.


DOI: 10.1016/j.tig.2008.06.005

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