The genetics of hyperekplexia: more than startle!

Harvey, Robert J., Topf, Maya, Harvey, Kirsten and Rees, Mark I. 2008. The genetics of hyperekplexia: more than startle! Trends in Genetics 24 (9) , pp. 439-447. 10.1016/j.tig.2008.06.005

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Abstract

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) α1 and β subunits, gephyrin and collybistin. However, new research suggests that mutations in the gene encoding the presynaptic glycine transporter GlyT2 are a second major cause of human hyperekplexia, as well as congenital muscular dystonia type 2 (CMD2) in cattle. These findings raise the intriguing possibility that both presynaptic and postsynaptic causes of disease might also exist in related disorders, such as idiopathic generalised epilepsies, where mutations in inhibitory GABAA receptor subunit genes have already been identified.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics
Publisher:	Elsevier
ISSN:	0168-9525
Last Modified:	05 Jul 2013 21:51
URI:	https://orca.cardiff.ac.uk/id/eprint/23721

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