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Cell
Article . 1997 . Peer-reviewed
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Cell
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Cell
Article . 1997
License: Elsevier Non-Commercial
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Cell
Article . 1997
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Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice

Authors: Cox, G A; Lutz, C M; Yang, C L; Biemesderfer, D; Bronson, R T; Fu, A; Aronson, P S; +2 Authors

Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice

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 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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Keywords

570, ph, 610, Genes-Recessive, Genes, Recessive, pp, Brain-Chemistry, Cell Line, Mice, Mice, Neurologic Mutants, Cerebellum: pa, Cerebellum, SUPPORT-U-S-GOVT-P-H-S, Animals, Point Mutation, Mice-Neurologic-Mutants: ge, Point-Mutation: ge, SUPPORT-NON-U-S-GOVT, Epilepsy: ge, Crosses, Genetic, Brain Chemistry, Cerebral Cortex, Organ-Specificity, ge, Epilepsy, Ion Transport, me, Biochemistry, Genetics and Molecular Biology(all), Mice-Inbred-C57BL, Sodium-Hydrogen-Antiporter: an, Chromosome Mapping, Crosses-Genetic, Electroencephalography, Cerebral-Cortex: pp, Cell-Line, Fibroblasts, Mice, Inbred C57BL, Phenotype, Organ Specificity, Chromosome-Mapping, RNA: an, RNA, Ataxia, Sodium: me, pa, Ion-Transport

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
257
Top 10%
Top 1%
Top 1%
hybrid