title: The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.
abstract: Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A. We aimed to describe the incidence of Dravet syndrome in the Danish population. Based on a 6-year birth cohort from 2004 to 2009, we propose an incidence of 1:22,000, which is higher than what has been established earlier. We identified 17 cases with SCN1A mutation-positive Dravet syndrome. Fifteen patients were found, by conventional Sanger sequencing. Two additional patients with clinical Dravet syndrome, but without a detectable SCN1A mutation by Sanger sequencing, were diagnosed with a SCN1A mutation after using a targeted next-generation sequencing gene panel.
authors.affiliation: Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
authors.forename: Allan
authors.initials: A
authors.lastname: Bayat
authors.forename: Helle
authors.initials: H
authors.lastname: Hjalgrim
authors.forename: Rikke S
authors.initials: RS
authors.lastname: Møller
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003718:Denmark / Q000453:epidemiology; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation / Q000235:genetics; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D011159:Population Surveillance / Q000379:methods; D012189:Retrospective Studies
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Dravet syndrome; Epileptic encephalopathy; SCN1A mutation; Severe myoclonic epilepsy in infancy