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.

Central nervous system diseases, Mice, mutant strains, Mutant mice

---

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.

Biological transport, Active, Active biological transport, Ion channels, Ataxia, Seizures (Medicine)

---

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.

Central nervous system

Similar abstracts:

• Abstracts: Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
• Abstracts: The presence of two S-layer-protein-encoding genes is conserved among species related to Lactobacillus acidophilus
• Abstracts: Identification of domains conferring G protein regulation on inward rectifier potassium channels. Strong voltage-dependent inward rectification of inward rectifier K+ channels is caused by intracellular spermine
• Abstracts: Albino and pink-eyed dilution mutants in the Russian dwarf hamster Phodopus campbelli. Tyrosinase and Tyrosinase Related Protein 1 Alleles Specify Domestic Cat Coat Color Phenotypes of the albino and brown Loci
• Abstracts: The eucaryal tRNA splicing endonuclease recognizes a tripartite set of RNA elements. Archaeal histones, nucleosomes, and transcription initiation

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.