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Article

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

Cell - 3 Oct 1997

Cox G A, Lutz C M, Yang C L, Biemesderfer D, Bronson R T, Fu A, Aronson P S, Noebels J L, Frankel W N

Abstract excerpt

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...

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PMID: 9335342
DOI: 10.1016/s0092-8674(01)80016-7

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