Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice.
Cell
; 91(1): 139-48, 1997 Oct 03.
Article
en En
| MEDLINE
| ID: mdl-9335342
ABSTRACT
The "housekeeping" sodium/hydrogen exchanger, NHE1, mediates the electroneutral 11 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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Intercambiadores de Sodio-Hidrógeno
/
Epilepsia
/
Ratones Mutantes Neurológicos
Tipo de estudio:
Prognostic_studies
Límite:
Animals
Idioma:
En
Revista:
Cell
Año:
1997
Tipo del documento:
Article
País de afiliación:
Estados Unidos