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

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

T Sugawara  1 , E Mazaki-Miyazaki, K Fukushima, J Shimomura, T Fujiwara, S Hamano, Y Inoue, K Yamakawa
Affiliations
Comparative Study

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

T Sugawara et al. Neurology. .

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.

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