期刊
TRENDS IN GENETICS
卷 24, 期 9, 页码 439-447出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2008.06.005
关键词
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资金
- Medical Research Council [60500833, 60501258, 60601585]
- Wales Office of Research and Development
- Wales Epilepsy Research Network
- MRC [60600084]
- MRC [G0600084, G0500833, G0601585, G0501258] Funding Source: UKRI
- Medical Research Council [G0501258, G0601585, G0500833, G0600084] Funding Source: researchfish
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 (GIyR) alpha 1 and beta subunits, gephyrin and collybistin. However, new research suggests that mutations in the gene encoding the presynaptic glycine transporter GIyT2 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 GABA(A) receptor subunit genes have already been identified.
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