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

219 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Sodium-Hydrogen Antiporter
Epilepsy
Genes
Defects
Cell membranes
Chromosomes
Housekeeping
Intercellular Signaling Peptides and Proteins
Chromosomes, Human, Pair 4
Cells
Cell Size
Cerebellum
Brain Stem
Cell Survival
Seizures
Alleles
Cell Membrane
Phenotype
Mutation

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Cox, G. A., Lutz, C. M., Yang, C-L., Biemesderfer, D., Bronson, R. T., Fu, A., ... 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

Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. / Cox, Gregory A.; Lutz, Cathleen M.; Yang, Chao-Ling; Biemesderfer, Daniel; Bronson, Roderick T.; Fu, Audrey; Aronson, Peter S.; Noebels, Jeffrey L.; Frankel, Wayne N.

In: Cell, Vol. 91, No. 1, 03.10.1997, p. 139-148.

Research output: Contribution to journalArticle

Cox, GA, Lutz, CM, Yang, C-L, Biemesderfer, D, Bronson, RT, Fu, A, Aronson, PS, Noebels, JL & Frankel, WN 1997, 'Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice', Cell, vol. 91, no. 1, pp. 139-148. https://doi.org/10.1016/S0092-8674(01)80016-7
Cox GA, Lutz CM, Yang C-L, Biemesderfer D, Bronson RT, Fu A et al. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell. 1997 Oct 3;91(1):139-148. https://doi.org/10.1016/S0092-8674(01)80016-7
Cox, Gregory A. ; Lutz, Cathleen M. ; Yang, Chao-Ling ; Biemesderfer, Daniel ; Bronson, Roderick T. ; Fu, Audrey ; Aronson, Peter S. ; Noebels, Jeffrey L. ; Frankel, Wayne N. / Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. In: Cell. 1997 ; Vol. 91, No. 1. pp. 139-148.
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