Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
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.
Sugawara
T
T
Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama, Japan.
Mazaki-Miyazaki
E
E
Fukushima
K
K
Shimomura
J
J
Fujiwara
T
T
Hamano
S
S
Inoue
Y
Y
Yamakawa
K
K
D004200:Diseases in Twins / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D004829:Epilepsy, Generalized / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D015222:Sodium Channels / Q000737:chemistry / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels