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Absence epilepsy in tottering mutant mice is associated with calcium channel defects

Article Abstract:

An alpha(sub 1A) voltage-sensitive calcium-channel gene that is mutated in the mouse tottering (tg and tg(super la)) locus is identified to be involved in absence epilepsy. Mutations at the tg locus cause a neurological disorder manifested by ataxia, motor seizures and behavioral absence seizures that resemble petit mal epilepsy in humans. A slow, selective degeneration of cerebellar neurons is also manifested by a more severe allele, leaner tg(super la). These results represent the first mutations in a mammalian central nervous system-specific voltage-sensitive calcium channel and mark the first time that a gene involved in absence epilepsy is identified.

Author: Jenkins, Nancy A., Copeland, Neal G., Frankel, Wayne N., Shaughnessy, John D., Jr., Fletcher, Colin F., Lutz, Cathleen M., O'Sullivan, T. Norene, Hawkes, Rochard
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
Central nervous system diseases, Mice, mutant strains, Mutant mice

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Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

Article Abstract:

A positional candidate approach was employed to determine that the ataxia and seizures in the lethargic (lh) mouse arise from mutation of the beta-subunit gene Cchb4 on mouse chromosome 2. A four-nucleotide insertion within a 5' splice site in lh/lh mice was identified after reduced abundance of the Cchb4 transcript in lh/lh brain was observed. Exon skipping, translational frameshifts and protein truncation were also noted. It is concluded that the lethargic locus is likely to represent a functionally null allele of the Cchb4 gene.

Author: Jones, Julie M., Noebels, Jeffrey L., Meisler, Miriam H., Burgess, Daniel L.
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
Biological transport, Active, Active biological transport, Ion channels, Ataxia, Seizures (Medicine)

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Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice

Article Abstract:

The brain activity of a mutant mice was studied by inducing a slow-wave epilepsy phenotype. Results show that there is a neoronal cell death in the mutant mice's cerebellum and brainstem. The sodium-hydrogen exchanger (NHE1) is proven to play an important role in detecting gene defects in the slow-wave epilepsy. However, the beginning and severity of slow-wave epilepsy depends on the genetic background of the mice.

Author: Bronson, Roderick T., Frankel, Wayne N., Noebels, Jeffrey L., Lutz, Cathleen M., Cox, Gregory A., Yang, Chao-Ling, Biemesderfer, Daniel, Fu, Audrey, Aronson, Peter S.
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
Central nervous system

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Subjects list: Research, Genetic aspects, Calcium channels, Epilepsy, Gene mutations, Gene mutation, Mice, Mice (Rodents)
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