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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

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Year: 2014
Type: article
Study design: Case Report
Source: Epilepsy Research
DOI: 10.1016/j.eplepsyres.2014.08.020
Authors: Carolien G.F. de Kovel, Miriam H. Meisler, Eva H. Brilstra, Frederique M.C. van Berkestijn, Ruben van ‘t Slot, Stef van Lieshout, Isaac J. Nijman, Janelle E. O’Brien, Michael F. Hammer, Mark Estacion, Stephen G. Waxman, Sulayman D. Dib-Hajj, Bobby P.C. Koeleman
Institutions: University Medical Center Utrecht, University of Michigan, University of Arizona, Yale University, VA Connecticut Healthcare System
Language: English

Topic: Epilepsy research and treatment
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: bronze

Funders: U.S. Department of Veterans Affairs, National Institutes of Health, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke
Awards: G1077869373, G1410238833, G5292881561
OpenAlex ID: W2001979260
FWCI: 9.67
Cites: 39
Cited by: 96
Related to: 10
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