Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
- 9 April 2002
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 58 (7) , 1122-1124
- https://doi.org/10.1212/wnl.58.7.1122
Abstract
Mutations in the neuronal voltage-gated sodium channel α-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.Keywords
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