SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.
Buoni
S
S
Department of Pediatrics, University of Siena, Siena, Italy.
Orrico
A
A
Galli
L
L
Zannolli
R
R
Burroni
L
L
Hayek
J
J
Fois
A
A
Sorrentino
V
V
D002648:Child; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017384:Sequence Deletion; D015222:Sodium Channels / Q000235:genetics*; D013226:Status Epilepticus / Q000503:physiopathology
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels