title: Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice.
abstract: Epidemiological data and genetic studies indicate that certain forms of human epilepsy are inherited. Based on the similarity between the human and mouse genomes, mouse models of epilepsy could facilitate the discovery of genes associated with epilepsy syndromes. Here, we report an insertional murine mutation that inactivates a novel gene and results in whole body jerks, generalized clonic seizures, and epileptic brain activity in transgenic mice. The gene, named jerky, encodes a putative 41.7 kD protein displaying homology to a number of nuclear regulatory proteins, suggesting that perhaps the jerky protein is able to bind DNA.
authors.affiliation: Department of Pharmacology, Cornell University Medical College, New York, New York 10021, USA.
authors.forename: M
authors.initials: M
authors.lastname: Toth
authors.forename: J
authors.initials: J
authors.lastname: Grimsby
authors.forename: G
authors.initials: G
authors.lastname: Buzsaki
authors.forename: G P
authors.initials: GP
authors.lastname: Donovan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001923:Brain Chemistry; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D004195:Disease Models, Animal; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics* / Q000503:physiopathology; D005796:Genes; D006234:Handling, Psychological; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008818:Mice, Neurologic Mutants; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D010375:Pedigree; D016601:RNA-Binding Proteins
chemical_list: D004268:DNA-Binding Proteins; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C095835:jrk protein, mouse