From genotype to phenotype in Dravet disease
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference40 articles.
1. Dravet syndrome (Severe myoclonic epilepsy in infancy);Dravet,2013
2. De novo mutations in the sodium-channel gene SCN1A causes severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001
3. Incidence of Dravet syndrome in a US population;Wu;Pediatrics,2015
4. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study;McIntosh;Lancet Neurol,2010
5. Electroencephalographic characteristics of Dravet syndrome;Bureau;Epilepsia,2011
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