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Cell. 1997 Oct 3;91(1):139-48.

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.

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1
The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

Erratum in

  • Cell 1997 Dec 12;91(6):861.

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.

PMID:
9335342
DOI:
10.1016/s0092-8674(01)80016-7
[Indexed for MEDLINE]
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