An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

Journal of Neuroscience

Volumn 26, Issue 10, 2006, Pages 2714-2723

  Barela, Arthur J ^a   Waddy, Salina P ^b   Lickfett, Jay G ^a   Hunter, Jessica ^b   Anido, Aimee ^b   Helmers, Sandra L ^b   Goldin, Alan L ^a   Escayg, Andrew ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Electrophysiology; Epilepsy; GEFS+; Mutation; SCN1A; Sodium channel

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; AMINO ACID; ARGININE; DNA; SODIUM CHANNEL;

ACTION POTENTIAL; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; EXON; GEL ELECTROPHORESIS; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; INTRON; MALE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; XENOPUS;

ACTION POTENTIALS; ANIMALS; ARGININE; CELL LINE; CHILD; CYSTEINE; DOSE-RESPONSE RELATIONSHIP, RADIATION; EPILEPSY; FAMILY HEALTH; FEMALE; HUMANS; ION CHANNEL GATING; MALE; MEMBRANE POTENTIALS; MODELS, MOLECULAR; MODELS, NEUROLOGICAL; MUTAGENESIS; MUTATION; NERVE TISSUE PROTEINS; OOCYTES; PATCH-CLAMP TECHNIQUES; RATS; SODIUM CHANNEL BLOCKERS; SODIUM CHANNELS; TETRODOTOXIN; XENOPUS;

EID: 33644823780     PISSN: 02706474     EISSN: 02706474     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.2977-05.2006     Document Type: Article

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