| Literature DB >> 11940708 |
T Sugawara1, E Mazaki-Miyazaki, K Fukushima, J Shimomura, T Fujiwara, S Hamano, Y Inoue, K Yamakawa.
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.Entities:
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Year: 2002 PMID： 11940708 DOI： 10.1212/wnl.58.7.1122
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910