Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort

Adv Neurol. 2005:95:103-17.

Authors

Hirokazu Oguni¹, Kitami Hayashi, Makiko Osawa, Yutaka Awaya, Yukio Fukuyama, Goryu Fukuma, Shinichi Hirose, Akihisa Mitsudome, Sunao Kaneko

Affiliation

¹ Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

PMID: 15508916

No abstract available

Publication types

Case Reports
Review

MeSH terms

Body Temperature / physiology
Cohort Studies
Electroencephalography / classification
Electroencephalography / methods
Epilepsies, Myoclonic / epidemiology
Epilepsies, Myoclonic / genetics*
Epilepsies, Myoclonic / physiopathology
Epilepsies, Myoclonic / therapy
Epilepsy, Reflex / physiopathology
Female
Genotype
Humans
Infant
Infant, Newborn
Japan / epidemiology
Japan / ethnology
Male
Mental Disorders / physiopathology
Mutation*
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins / genetics*
Phenotype
Sodium Channels / genetics*
Treatment Outcome

Substances

NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins
SCN1A protein, human
Sodium Channels