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

Gregory A. Cox, Cathleen M. Lutz, Chao Ling Yang, Daniel Biemesderfer, Roderick T. Bronson, Audrey Fu, Peter S. Aronson, Jeffrey L. Noebels, Wayne N. Frankel

Research output: Contribution to journalArticle

221 Scopus citations

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 pH(i), cell volume, and response to growth factors. We describe a spontaneous mouse mutant, slow-wave epilepsy, (swe), with a neurological syndrome including ataxis 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.

Original languageEnglish (US)
Pages (from-to)139-148
Number of pages10
JournalCell
Volume91
Issue number1
DOIs
StatePublished - Oct 3 1997

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    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. (1997). Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell, 91(1), 139-148. https://doi.org/10.1016/S0092-8674(01)80016-7