Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

Neurology ·Vol. 58 ·No. 7 ·2002-04-09 ·Pages 1122-4

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

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.

MeSH Terms

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

Chemicals

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

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Sugawara T

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

Mazaki-Miyazaki E

Fukushima K

Shimomura J

Fujiwara T

Hamano S

Inoue Y

Yamakawa K

Article Info

Journal

Neurology

Abbr.

Neurology

ISSN

0028-3878

DOI

10.1212/wnl.58.7.1122

Published

2002-04-09

Pages

1122-4

Language

English

Region

United States

NLM ID

0401060

Subset

External Links

PubMed source DOI: 10.1212/wnl.58.7.1122 View journal details

Analysis Services

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

Contact

WeChat Official Account