Article
Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice.
Synapse (New York, N.Y.) - 1 May 2008
Kaja Simon, Van De Ven Rob C G, Frants Rune R, Ferrari Michel D, Van Den Maagdenberg Arn M J M, Plomp Jaap J
Abstract excerpt
Episodic ataxia type 2 (EA2) is an autosomal dominantly inherited neurological disorder. Patients have CACNA1A gene mutations resulting in truncation or single amino acid changes in the pore-forming subunit of Ca(v)2.1 (P/Q-type) Ca(2+) channels. These neuronal channels mediate synaptic neurotransmitter release. EA2 symptoms are thought to result from disturbed neurotransmission at cerebellar and neuromuscular...
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