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Epilepsia. 2015 Apr;56(4):e36-9. doi: 10.1111/epi.12927. Epub 2015 Mar 16.

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

Author information

1
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

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.

KEYWORDS:

Dravet syndrome; Epileptic encephalopathy; SCN1A mutation; Severe myoclonic epilepsy in infancy

PMID:
25778844
DOI:
10.1111/epi.12927
[Indexed for MEDLINE]
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