Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.
Oguni
Hirokazu
H
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Hayashi
Kitami
K
Osawa
Makiko
M
Awaya
Yutaka
Y
Fukuyama
Yukio
Y
Fukuma
Goryu
G
Hirose
Shinichi
S
Mitsudome
Akihisa
A
Kaneko
Sunao
S
D001831:Body Temperature / Q000502:physiology; D015331:Cohort Studies; D004569:Electroencephalography / Q000145:classification / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D020195:Epilepsy, Reflex / Q000503:physiopathology; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology / Q000208:ethnology; D008297:Male; D001523:Mental Disorders / Q000503:physiopathology; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*; D016896:Treatment Outcome
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels