SCN1A Gene Mutations in Severe Infantile Myoclonic Epilepsy

J Gordon Millichap

doi:10.15844/pedneurbriefs-16-4-6

SCN1A Gene Mutations in Severe Infantile Myoclonic Epilepsy

Pediatric Neurology Briefs

Volume 16 (2002): Issue 4

By: J Gordon Millichap

Open Access

|Apr 2002

Abstract

Ten novel mutations of SCN1A were found in in a pair of monozygotic twins and 12 unrelated Japanese infants with severe myoclonic epilepsy in infancy (SMEI) examined at the Brain Science Institute, Saitama; and National Epilepsy Center, Shizuoko, Japan.

References

Sugawara T Mazaki-Miyazaki E Fukushima K Shimomura J Fujiwara T Hamano S Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy Neurology 2002 Apr 9 58 7 1122 1124 10.1212/WNL.58.7.1122 11940708
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-16-4-6 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 28 - 29

Published on: Apr 1, 2002

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Severe Myoclonic Epilepsy,

Myoclonic Seizures,

Heterozygous Mutations

© 2002 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 16 (2002): Issue 4