title: A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.
abstract: We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.
authors.affiliation: Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, 5006 Australia. john.mulley@cywhs.sa.gov.au
authors.forename: J C
authors.initials: JC
authors.lastname: Mulley
authors.forename: P
authors.initials: P
authors.lastname: Nelson
authors.forename: S
authors.initials: S
authors.lastname: Guerrero
authors.forename: L
authors.initials: L
authors.lastname: Dibbens
authors.forename: X
authors.initials: X
authors.lastname: Iona
authors.forename: J M
authors.initials: JM
authors.lastname: McMahon
authors.forename: L
authors.initials: L
authors.lastname: Harkin
authors.forename: J
authors.initials: J
authors.lastname: Schouten
authors.forename: S
authors.initials: S
authors.lastname: Yu
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: I E
authors.initials: IE
authors.lastname: Scheffer
mesh_terms: D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels