期刊
NATURE REVIEWS NEUROLOGY
卷 8, 期 2, 页码 86-96出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrneurol.2011.228
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资金
- Wellcome Trust
- Medical Research Council
- Action Medical Research
- National Institute for Health Research Biomedical Research Center
- Medical Research Council [G0601943]
- Medical Research Council [G0601943] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
The past two decades have witnessed the emergence of a new and expanding field of neurological diseases-the genetic ion channelopathies. These disorders arise from mutations in genes that encode ion channel subunits, and manifest as paroxysmal attacks involving the brain or spinal cord, and/or muscle. The voltage-gated P/Q-type calcium channel (P/Q channel) is highly expressed in the cerebellum, hippocampus and cortex of the mammalian brain. The P/Q channel has a fundamental role in mediating fast synaptic transmission at central and peripheral nerve terminals. Autosomal dominant mutations in the CACNA1A gene, which encodes voltage-gated P/Q-type calcium channel subunit alpha(1) (the principal pore-forming subunit of the P/Q channel) are associated with episodic and progressive forms of cerebellar ataxia, familial hemiplegic migraine, vertigo and epilepsy. This Review considers, from both a clinical and genetic perspective, the various neurological phenotypes arising from inherited P/Q channel dysfunction, with a focus on recent advances in the understanding of the pathogenetic mechanisms underlying these disorders.
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