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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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 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.[1]

References

  1. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. 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. Cell (1997) [Pubmed]
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