title: Sodium-channel defects in benign familial neonatal-infantile seizures.
abstract: Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.
authors.affiliation: Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia. sheron@bionomics.com.au
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Heron
authors.forename: Kathryn M
authors.initials: KM
authors.lastname: Crossland
authors.forename: Eva
authors.initials: E
authors.lastname: Andermann
authors.forename: Hilary A
authors.initials: HA
authors.lastname: Phillips
authors.forename: Allison J
authors.initials: AJ
authors.lastname: Hall
authors.forename: Andrew
authors.initials: A
authors.lastname: Bleasel
authors.forename: Michael
authors.initials: M
authors.lastname: Shevell
authors.forename: Suha
authors.initials: S
authors.lastname: Mercho
authors.forename: Marie-Helene
authors.initials: MH
authors.lastname: Seni
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Guiot
authors.forename: John C
authors.initials: JC
authors.lastname: Mulley
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001315:Australia; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020936:Epilepsy, Benign Neonatal / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062551:NAV1.2 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568251:SCN2A protein, human; D015222:Sodium Channels