期刊
NEUROLOGY
卷 58, 期 7, 页码 1122-1124出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.58.7.1122
关键词
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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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