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Pediatrics. 2015 Nov;136(5):e1310-5. doi: 10.1542/peds.2015-1807. Epub 2015 Oct 5.

Incidence of Dravet Syndrome in a US Population.

Author information

1
Departments of Neurology and Pediatrics, University of California, San Francisco, San Francisco, California; wuy@ucsf.edu.
2
Departments of Neurology and Pediatrics, University of California, San Francisco, San Francisco, California;
3
Divisions of Child Neurology.
4
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
5
Research, and.
6
Research, and Neonatology, Kaiser Permanente Northern California, Oakland, California; and.

Abstract

OBJECTIVE:

De novo mutations of the gene sodium channel 1α (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has been estimated at 1 in 40 000, but no US epidemiologic studies have been performed since the advent of genetic testing.

METHODS:

In a retrospective, population-based cohort of all infants born at Kaiser Permanente Northern California during 2007-2010, we electronically identified patients who received ≥2 seizure diagnoses before age 12 months and who were also prescribed anticonvulsants at 24 months. A child neurologist reviewed records to identify infants who met 4 of 5 criteria for clinical Dravet syndrome: normal development before seizure onset; ≥2 seizures before age 12 months; myoclonic, hemiclonic, or generalized tonic-clonic seizures; ≥2 seizures lasting >10 minutes; and refractory seizures after age 2 years. SCN1A gene sequencing was performed as part of routine clinical care.

RESULTS:

Eight infants met the study criteria for clinical Dravet syndrome, yielding an incidence of 1 per 15 700. Six of these infants (incidence of 1 per 20 900) had a de novo SCN1A missense mutation that is likely to be pathogenic. One infant had an inherited SCN1A variant that is unlikely to be pathogenic. All 8 experienced febrile seizures, and 6 had prolonged seizures lasting >10 minutes by age 1 year.

CONCLUSIONS:

Dravet syndrome due to an SCN1A mutation is twice as common in the United States as previously thought. Genetic testing should be considered in children with ≥2 prolonged febrile seizures by 1 year of age.

PMID:
26438699
PMCID:
PMC4621800
DOI:
10.1542/peds.2015-1807
[Indexed for MEDLINE]
Free PMC Article

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