title: SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy.
authors.affiliation: Department of Pediatrics, University of Siena, Siena, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Buoni
authors.forename: A
authors.initials: A
authors.lastname: Orrico
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: R
authors.initials: R
authors.lastname: Zannolli
authors.forename: L
authors.initials: L
authors.lastname: Burroni
authors.forename: J
authors.initials: J
authors.lastname: Hayek
authors.forename: A
authors.initials: A
authors.lastname: Fois
authors.forename: V
authors.initials: V
authors.lastname: Sorrentino
mesh_terms: 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
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels