The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009

Epilepsia
Allan BayatRikke S Møller

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.

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Citations

Nov 14, 2015·Expert Review of Molecular Diagnostics·Rikke S MøllerIngo Helbig
Mar 12, 2016·Paediatric Drugs·Adam WallaceDaniel L Kenney-Jung
Jul 29, 2016·Molecular Genetics & Genomic Medicine·Tania DjémiéUNKNOWN EuroEPINOMICS‐RES Dravet working group
Jun 7, 2016·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Mary B Connolly
Nov 26, 2015·Lancet Neurology·Amy McTagueIngrid E Scheffer
Oct 16, 2015·Epilepsy & Behavior : E&B·J Peter MartinB Rautenstrauß
Oct 13, 2016·Epilepsy & Behavior : E&B·Sharon ShmuelyRoland D Thijs
Oct 30, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A SchoonjansB Ceulemans
Aug 15, 2015·Journal of Child Neurology·Semra Gürsoy, Derya Erçal
Jan 22, 2019·Expert Review of Molecular Diagnostics·Rikke S MøllerKatrine M Johannesen
Mar 14, 2020·Brain : a Journal of Neurology·Javier A López-RiveraDennis Lal
Aug 13, 2020·Epilepsia·Guido RubboliKatrine M Johannesen
Jul 16, 2019·Brain : a Journal of Neurology·Joseph D SymondsMargaret Wilson
Aug 18, 2020·Expert Review of Neurotherapeutics·Adam Strzelczyk, Susanne Schubert-Bast
Feb 26, 2019·Case Reports in Medicine·Saada AlameAndré Mégarbané
Apr 23, 2020·Brain : a Journal of Neurology·Johannes R Lemke
Mar 30, 2018·CNS Drugs·Kelly G Knupp, Elaine C Wirrell
Jun 28, 2020·Indian Journal of Pediatrics·Dipti KapoorAkbar Mohaned Chettali
Dec 5, 2020·Expert Opinion on Drug Discovery·Barbara Miziak, Stanisław Czuczwar
Jan 19, 2021·Expert Review of Neurotherapeutics·An-Sofie Schoonjans, Berten Ceulemans
Jan 22, 2021·Epilepsia·Katherine B HowellA Simon Harvey
Dec 22, 2019·Seizure : the Journal of the British Epilepsy Association·Tracy S GertlerLinda Laux
Feb 16, 2020·Neuroscience·Merrick S Fallah, James H Eubanks
Mar 9, 2021·Epilepsia Open·Isabella BrambillaRima Nabbout
Mar 8, 2021·Seizure : the Journal of the British Epilepsy Association·Arunan SelvarajahDanielle M Andrade
May 4, 2021·Neurogenetics·Ana Carla Mondek RampazzoPaulo Henrique Pires de Aguiar
Jun 29, 2021·Frontiers in Neurology·Altynshash JaxybayevaKymbat Jamanbekova

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