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Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.

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...

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Publication status:
Published

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Publisher copy:
10.1006/bbrc.2002.6570

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Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
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

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