A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction

Journal of Neuroscience

Volumn 24, Issue 44, 2004, Pages 10022-10034

  Spampanato, J ^a   Kearney, J A ^c   De Haan, G ^c   McEwen, D P ^c   Escayg, A ^c   Aradi, I ^b   MacDonald, B T ^c   Levin, S I ^c   Soltesz, I ^b   Benna, P ^d   Montalenti, E ^d   Isom, L L ^c   Goldin, A L ^a,b   Meisler, M H ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF TURIN   (Italy)

Author keywords

Channel; Epilepsy; Genetics; Kinetic (kinetics); Mutant; Sodium (Na)

Indexed keywords

MUTANT PROTEIN; PROTEIN SODIUM CHANNEL ALPHA SUBUNIT; PROTEIN SODIUM CHANNEL BETA 1 SUBUNIT; PROTEIN SODIUM CHANNEL BETA 3 SUBUNIT; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

ALPHA CHAIN; ANIMAL CELL; ARTICLE; BETA CHAIN; CARBOXY TERMINAL SEQUENCE; CHILD; COMPUTER ANALYSIS; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FEBRILE CONVULSION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; IMMUNOPRECIPITATION; ITALY; KINETICS; NERVE CELL EXCITABILITY; NERVE CELL MEMBRANE POTENTIAL; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PROTEIN INTERACTION; XENOPUS LAEVIS;

ACTION POTENTIALS; AMINO ACID SEQUENCE; ANIMALS; CRICETINAE; CRICETULUS; CYTOPLASM; EPILEPSY, GENERALIZED; FEMALE; HUMANS; ION CHANNEL GATING; KINETICS; MALE; MODELS, NEUROLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; NEURONS; OOCYTES; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; SACCHAROMYCES CEREVISIAE; SEIZURES, FEBRILE; SODIUM CHANNELS; XENOPUS LAEVIS;

EID: 20844446135     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.2034-04.2004     Document Type: Article

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