Article
Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Feb 1997
Doyle J, Ren X, Lennon G, Stubbs L
Abstract excerpt
Tottering and leaner, two mutations of the mouse tottering locus, have been studied extensively as models for human epilepsy. Here we describe the isolation, mapping, and expression analysis of Cacnl1a4, a gene encoding the alpha subunit of a proposed P-type calcium channel, and also report the p...
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