Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

T Sugawara; E Mazaki-Miyazaki; K Fukushima; J Shimomura; T Fujiwara; S Hamano; Y Inoue; K Yamakawa

doi:10.1212/wnl.58.7.1122

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

Neurology. 2002 Apr 9;58(7):1122-4. doi: 10.1212/wnl.58.7.1122.

Authors

T Sugawara¹, E Mazaki-Miyazaki, K Fukushima, J Shimomura, T Fujiwara, S Hamano, Y Inoue, K Yamakawa

Affiliation

¹ Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama, Japan.

PMID: 11940708
DOI: 10.1212/wnl.58.7.1122

Abstract

Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein.

Publication types

Comparative Study

MeSH terms

Diseases in Twins / genetics
Epilepsies, Myoclonic / genetics*
Epilepsies, Myoclonic / physiopathology
Epilepsy, Generalized / genetics
Epilepsy, Generalized / physiopathology
Female
Humans
Infant
Male
Mutation / genetics*
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins / chemistry
Nerve Tissue Proteins / genetics*
Pedigree
Sodium Channels / chemistry
Sodium Channels / genetics*
Twins, Monozygotic / genetics

Substances

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