Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.
Ataxia, Brain-Chemistry, Cell-Line, Cerebellum: pa, Cerebral-Cortex: pp, pa, Chromosome-Mapping, Crosses-Genetic, Electroencephalography, Epilepsy: ge, pp, me, pa, Fibroblasts, Genes-Recessive, Ion-Transport, Mice, Mice-Inbred-C57BL, Mice-Neurologic-Mutants: ge, Organ-Specificity, Phenotype, Point-Mutation: ge, RNA: an, Sodium: me, Sodium-Hydrogen-Antiporter: an, ge, ph, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S
Cell 1997 Oct 3;91(1):139-48
NS31348/NS/NINDS, NS33396/NS/NINDS, NS29702/NS/NINDS, +
The housekeeping sodium/hydrogen exchanger, NHE1, mediates the electroneutral 1:1 exchange of Na+ and H+ across the plasma membrane. NHE1 is ubiquitous and is studied extensively for regulation of pHi, cell volume, and response to growth factors. We describe a spontaneous mouse mutant, slow-wave epilepsy, (swe), with a neurological syndrome including ataxia and a unique epilepsy phenotype consisting of 3/sec absence and tonic-clonic seizures. swe was fine-mapped on Chromosome 4 and identified as a null allele of Nhe1. Mutants show selective neuronal death in the cerebellum and brainstem but otherwise are healthy. This first example of a disease-causing mutation in an Nhe gene provides a new tool for studying the delicate balance of neuroexcitability and cell survival within the CNS.
Cox, G A.; Lutz, C M.; Yang, C L.; Biemesderfer, D; Bronson, R T.; Fu, A; Aronson, P S.; Noebels, J L.; and Frankel, W N., " Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice." (1997). Faculty Research 1990 - 1999. 932.