Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

Brain

Volumn 126, Issue 3, 2003, Pages 531-546

  Fujiwara, Tateki ^a   Sugawara, Takashi ^b   Mazaki Miyazaki, Emi ^b   Takahashi, Yukitoshi ^c   Fukushima, Katsuyuki ^a   Watanabe, Masako ^a   Hara, Keita ^a   Morikawa, Tateki ^a   Yagi, Kazuichi ^a   Yamakawa, Kazuhiro ^b   Inoue, Yushi ^a  

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

^b RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^c GIFU PREFECTURAL GIFU HOSPITAL   (Japan)

Author keywords

Febrile seizures; Generalized tonic clonic seizures; Intractable childhood epilepsies; Severe myoclonic epilepsy in infancy; Voltage gated sodium channel

Indexed keywords

GENE PRODUCT; MEMBRANE PROTEIN; PROTEIN SCN1A; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FAMILY HISTORY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE MUTATION; GENERALIZED EPILEPSY; GENOTYPE; GRAND MAL EPILEPSY; HUMAN; JAPAN; MALE; MISSENSE MUTATION; MONOZYGOTIC TWINS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; TIME SERIES ANALYSIS;

ADOLESCENT; ADULT; BODY TEMPERATURE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; EPILEPSY, TONIC-CLONIC; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 0344672944     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg053     Document Type: Article

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