TY - JOUR
T1 - Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice
AU - Cox, Gregory A.
AU - Lutz, Cathleen M.
AU - Yang, Chao Ling
AU - Biemesderfer, Daniel
AU - Bronson, Roderick T.
AU - Fu, Audrey
AU - Aronson, Peter S.
AU - Noebels, Jeffrey L.
AU - Frankel, Wayne N.
N1 - Funding Information:
We thank Hope Sweet and Don Varmus (The Jackson Laboratory) for mouse ovary transplants to initially maintain the line, Jonathan Stoye for suggesting viral oligonucleotides for REVEAL–PCR, Eva Eicher for congenic mice, and Susan Ackerman and Tim O'Brien for initial review of this manuscript. This work was supported by National Institutes of Health grants NS31348, NS33396, NS29702, and NS11535 and by a Klingenstein Fellowship to W. N. F.
PY - 1997/10/3
Y1 - 1997/10/3
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/0030886101
U2 - 10.1016/S0092-8674(01)80016-7
DO - 10.1016/S0092-8674(01)80016-7
M3 - Article
C2 - 9335342
AN - SCOPUS:0030886101
SN - 0092-8674
VL - 91
SP - 139
EP - 148
JO - Cell
JF - Cell
IS - 1
ER -