Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice

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 neurotransmi...

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Veröffentlicht in:	Synapse (New York, N.Y.) N.Y.), 2008-05, Vol.62 (5), p.337-344
Hauptverfasser:	Kaja, Simon, Van De Ven, Rob C G, Frants, Rune R, Ferrari, Michel D, Van Den Maagdenberg, Arn M J M, Plomp, Jaap J
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetazolamide - pharmacology Acetylcholine - metabolism Animals Anticonvulsants - pharmacology Calcium Channels, N-Type - genetics Excitatory Postsynaptic Potentials - drug effects Genotype Mice Mice, Knockout Mice, Neurologic Mutants Neuromuscular Junction - genetics Neuromuscular Junction - metabolism Receptors, Presynaptic - drug effects Receptors, Presynaptic - metabolism
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