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.
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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.
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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.
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