Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

Neurology

Volumn 57, Issue 4, 2001, Pages 703-705

  Sugawara, T ^a   Mazaki Miyazaki, E ^a   Ito, M ^b   Nagafuji, H ^c   Fukuma, G ^d   Mitsudome, A ^d   Wada, K ^e   Kaneko, S ^e   Hirose, S ^d   Yamakawa, K ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^c Kitano Hospital   (Japan)

^d FUKUOKA UNIVERSITY   (Japan)

^e HIROSAKI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL; VOLTAGE GATED CHANNEL FORMING PROTEIN; NERVE PROTEIN; SODIUM CHANNEL, VOLTAGE GATED, TYPE I, ALPHA PROTEIN; SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, ALPHA PROTEIN;

ALPHA HELIX; ARTICLE; CASE REPORT; EPILEPSY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; HUMAN; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; AMINO ACID SEQUENCE; ANIMAL; CHILD; GENETICS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE;

AMINO ACID SEQUENCE; ANIMALS; CHILD; EPILEPSIES, PARTIAL; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 0035964102     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.4.703     Document Type: Article

References (10)

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3. Nomenclature of voltage-gated sodium channels
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5. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
6. From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
7. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
8. A novel mutation of KCNQ3 (c.925T 224 C) in a Japanese family with benign familial neonatal convulsions
9. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita
10. Identification of a mutation in the gene causing hyperkalemic periodic paralysis