Faculty Research 1990 - 1999
Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.
Document Type
Article
Publication Date
1997
Keywords
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
First Page
139
Last Page
148
JAX Source
Cell 1997 Oct 3;91(1):139-48
Grant
NS31348/NS/NINDS, NS33396/NS/NINDS, NS29702/NS/NINDS, +
Abstract
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.
Recommended Citation
Cox GA,
Lutz CM,
Yang CL,
Biemesderfer D,
Bronson RT,
Fu A,
Aronson PS,
Noebels JL,
Frankel WN.
Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 1997 Oct 3;91(1):139-48