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The genetics of hyperekplexia: more than startle!
Journal article   Peer reviewed

The genetics of hyperekplexia: more than startle!

Robert J Harvey, M Topf, K Harvey and M I Rees
Trends in Genetics, Vol.24(9), pp.439-447
2008
DOI: https://doi.org/10.1016/j.tig.2008.06.005
url
https://doi.org/10.1016/j.tig.2008.06.005View
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Abstract

4 aminobutyric acid A receptor gephyrin glycine receptor glycine receptor alpha 1 glycine receptor beta
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. © 2008 Elsevier Ltd. All rights reserved.

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