Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
T Sugawara, E Mazaki–Miyazaki, K Fukushima… - Neurology, 2002 - AAN Enterprises
T Sugawara, E Mazaki–Miyazaki, K Fukushima, J Shimomura, T Fujiwara, S Hamano…
Neurology, 2002•AAN EnterprisesMutations 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.
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.
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.
American Academy of Neurology