Journal article
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, C Depienne, E Brilstra, Y Mang, JEK Nielsen, M Kirkpatrick, D Goudie, R Goldman, JA Jähn, B Jepsen, D Gill, M Döcker, S Biskup, JM McMahon, B Koeleman Show all
Neurology | Published : 2015
Abstract
Objective: SCN8A encodes the sodium channel voltage-gated a8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. Methods: We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertained cases with SCN8A mutations from other centers. A detailed clinical history was obtained together with a review of EEG and imaging data. Results: Seventeen patients with de novo heterozygous mutations of SCN8A were studied. Seizure onset occurred at a mean age of 5 months (range: 1 day to 18 months); ..
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Awarded by National Institute of Neurological Disorders and Stroke
Funding Acknowledgements
The research is supported by Wilhelm Johannsen Centre for Functional Genome Research, ICMM, University of Copenhagen, NIH (National Institute of Neurological Disorders and Stroke 1R01NS069605) to H.C.M., the American Epilepsy Society and the Lennox and Lombroso Fund to G.L.C., National Health and Medical Research Foundation to S.F.B. and I.E.S., the Lundbeck Foundation (2012-6206) to N.T., Institut fur Humangenetik, Universitat Wurzburg, Patient P was part of the DDD Study, which presents independent research commissioned by the Health Innovation Challenge Fund (grant HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant WT098051). The research team acknowledges the support of the National Institute for Health, funds from the Italian Minister of Health, RF 2009-1525669; special thanks to Eurocores program EuroEPINOMICS of the European Science Foundation (P.D.J.).