title: Isolating single genes of the inherited epilepsies.
abstract: Defined gene mutations in mice offer a singular opportunity to learn how individual genes alter excitability and plasticity within the developing central nervous system. The search for mutant loci that initiate abnormal synchronous discharges characteristic of the epilepsies is a simple method of identifying some of these genes. This method provides a coherent framework for the design of strategies to isolate and correct the biochemical lesion prior to the clinical expression of the disease. The tottering mutation is the first to yield new clues as to the mechanisms of inherited epileptogenesis.
mesh_terms: D000818:Animals; D001921:Brain / Q000503:physiopathology; D002874:Chromosome Mapping; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D051379:Mice; D009154:Mutation; D009638:Norepinephrine / Q000378:metabolism; D010641:Phenotype; D009435:Synaptic Transmission
chemical_list: D009638:Norepinephrine