- Abstract:
-
The syndrome of generalized epilepsy with febrile seizure plus (GEFS+) is associated with a single point mutation on the gene SCN1B that results in a substitution of the cysteine 121 with a tryptophane in the sodium channel beta 1-subunit protein. We have studied, in the HEK cells permanently transfected with the skeletal muscle sodium channel alpha-subunit (SkM1), the effects of a transient transfection of the wild type (WT) or C121W mutant beta 1-subunit. Coexpression of the WT beta 1 produ...
Expand abstract - Publication status:
- Published
- Journal:
- Biochemical and biophysical research communications
- Volume:
- 291
- Issue:
- 4
- Pages:
- 1095-1101
- Publication date:
- 2002-03-05
- DOI:
- EISSN:
-
1090-2104
- ISSN:
-
0006-291X
- URN:
-
uuid:a5f4d439-d4d9-4bd1-8985-861ecff1c070
- Source identifiers:
-
386843
- Local pid:
- pubs:386843
- Copyright date:
- 2002
Journal article
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.
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