Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice |
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Authors: | Johannah Doyle Xiaojia Ren Greg Lennon and Lisa Stubbs |
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Institution: | (1) Biology Division, Oak Ridge National Laboratory, P.O. Box 2009, Oak Ridge, Tennessee 37831-8077, USA, US;(2) University of Tennessee-Oak Ridge School of Biomedical Sciences, Oak Ridge National Laboratory, P.O. Box 2009, Oak Ridge, Tennessee 37831-8077, USA, US;(3) Human Genome Center, Lawrence Livermore National Laboratory, 7000 East Ave., L-452, Livermore, California 94551, USA, US |
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Abstract: | 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 physical mapping and expression
patterns of the orthologous human gene. DNA sequencing and gene expression data demonstrate that Cacnl1a4 mutations are the primary cause of seizures and ataxia in tottering and leaner mutant mice, and suggest that tottering locus
mutations and human diseases, episodic ataxia 2 and familial hemiplegic migraine, represent mutations in mouse and human versions
of the same channel-encoding gene.
Received: 1 November 1996 / Accepted: 20 November 1996 |
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