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The incidence of SCN 1A ‐related Dravet syndrome in D enmark is 1:22,000: A population‐based study from 2004 to 2009
Author(s) -
Bayat Allan,
Hjalgrim Helle,
Møller Rikke S.
Publication year - 2015
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12927
Subject(s) - dravet syndrome , incidence (geometry) , medicine , pediatrics , population , epilepsy , psychiatry , environmental health , mathematics , geometry
Summary Dravet syndrome is a severe infantile‐onset epileptic encephalopathy associated with mutations in the sodium channel alpha‐1 subunit gene SCN 1A . 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 SCN 1A mutation–positive Dravet syndrome. Fifteen patients were found, by conventional Sanger sequencing. Two additional patients with clinical Dravet syndrome, but without a detectable SCN 1A mutation by Sanger sequencing, were diagnosed with a SCN 1A mutation after using a targeted next‐generation sequencing gene panel.