Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice

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Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice

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 con...

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Epilepsy genetics: An abundance of riches for biologists

Twenty-five genes have been identified in which mutations cause epileptic seizures in mice. The gene for a Na+/H+ exchanger has recently been found to underlie the spontaneous mutant slow wave epilepsy. Studies of such mutants should help elucidate the mechanisms that control neuronal excitability.

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ژورنال

عنوان ژورنال: Cell

سال: 1997

ISSN: 0092-8674

DOI: 10.1016/s0092-8674(01)80016-7