The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.
Epilepsia
; 56(4): e36-9, 2015 Apr.
Article
en En
| MEDLINE
| ID: mdl-25778844
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 122,000, 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Vigilancia de la Población
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Epilepsias Mioclónicas
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Canal de Sodio Activado por Voltaje NAV1.1
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
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Incidence_studies
/
Observational_studies
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Prognostic_studies
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Risk_factors_studies
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Screening_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
Epilepsia
Año:
2015
Tipo del documento:
Article
País de afiliación:
Dinamarca