title: Confirming an expanded spectrum of SCN2A mutations: a case series.
abstract: Mutations in sodium channel genes are highly associated with epilepsy. Mutation of SCN1A, the gene encoding the voltage gated sodium channel (VGSC) alpha subunit type 1 (Nav1.1), causes Dravet syndrome spectrum disorders. Mutations in SCN2A have been identified in patients with benign familial neonatal-infantile epilepsy (BFNIE), generalised epilepsy with febrile seizures plus (GEFS+), and a small number of reported cases of other infantile-onset severe intractable epilepsy. Here, we report three patients with infantile-onset severe intractable epilepsy found to have de novo mutations in SCN2A. While a causal role for these mutations cannot be directly established, these findings contribute to growing evidence that mutation of SCN2A is associated with a range of epilepsy phenotypes including severe infantile-onset epilepsy.
authors.affiliation: Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
authors.forename: Dena
authors.initials: D
authors.lastname: Matalon
authors.affiliation: Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
authors.forename: Ethan
authors.initials: E
authors.lastname: Goldberg
authors.affiliation: Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
authors.forename: Livija
authors.initials: L
authors.lastname: Medne
authors.affiliation: Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.
authors.forename: Eric D
authors.initials: ED
authors.lastname: Marsh
mesh_terms: D053447:Channelopathies / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D010641:Phenotype; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human; D015222:Sodium Channels
keywords: SCN2A; channelopathy; early epileptic encephalopathy