A Nonsense Mutation of the Sodium Channel Gene SCN2A in A Patient with Intractable Epilepsy and Mental Decline

Journal of Neuroscience

Volumn 24, Issue 11, 2004, Pages 2690-2698

  Kamiya, Kazusaku ^a   Kaneda, Makoto ^b   Sugawara, Takashi ^a   Mazaki, Emi ^a   Okamura, Nami ^a   Montal, Mauricio ^c   Makita, Naomasa ^d   Tanaka, Masaki ^e   Fukushima, Katsuyuki ^e   Fujiwara, Tateki ^e   Inoue, Yushi ^e   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

Author keywords

Dominant negative; Epilepsy; Mental decline; Nonsense mutation; SCN2A; Sodium channel

Indexed keywords

SODIUM CHANNEL;

ADULT; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOSKELETON; EMBRYO; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE INACTIVATION; GENERALIZED EPILEPSY; HUMAN; HUMAN CELL; HYPERPOLARIZATION; INTRACTABLE EPILEPSY; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MISSENSE MUTATION; MYOCLONUS EPILEPSY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN LOCALIZATION; SCN2A GENE; TEMPERATURE SENSITIVITY; VOLTAGE GATED SODIUM CHANNEL ALPHA SUBUNIT 1; VOLTAGE GATED SODIUM CHANNEL ALPHA SUBUNIT 2;

ADULT; AUTISTIC DISORDER; CELL LINE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENE EXPRESSION; GENES, DOMINANT; HUMANS; HYPERKINESIS; KIDNEY; MENTAL RETARDATION; NERVE TISSUE PROTEINS; PATCH-CLAMP TECHNIQUES; PEDIGREE; PROTEIN SUBUNITS; SODIUM CHANNELS; TRANSFECTION;

EID: 12144286141     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3089-03.2004     Document Type: Article

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