| First Author | Cox GA | Year | 1997 |
| Journal | Cell | Volume | 91 |
| Issue | 1 | Pages | 139-48 |
| PubMed ID | 9335342 | Mgi Jnum | J:43429 |
| Mgi Id | MGI:1097724 | Doi | 10.1016/s0092-8674(01)80016-7 |
| Citation | Cox GA, et al. (1997) Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 91(1):139-48 |
| abstractText | 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 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. |
