Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
نویسندگان
چکیده
منابع مشابه
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
BACKGROUND AND PURPOSE The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and clas...
متن کاملAudit of use of stiripentol in adults with Dravet syndrome
OBJECTIVES There are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability of stiripentol in adults with DS. MATERIAL AND METHODS We conducted an observational clinical ...
متن کاملDravet syndrome: a new causative SCN1A mutation?
Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.
متن کاملIdentification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
BACKGROUND Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the gene encoding protocadherin-19. Mutations in other genes account for only a very small proportion of families. TSPYL4 is a novel candidate gene...
متن کاملStiripentol in Dravet syndrome: results of a retrospective U.S. study.
PURPOSE To review the efficacy and tolerability of stiripentol in the treatment of U.S. children with Dravet syndrome. METHODS U.S. clinicians who had prescribed stiripentol for two or more children with Dravet syndrome between March 2005 and 2012 were contacted to request participation in this retrospective study. Data collected included overall seizure frequency, frequency of prolonged seiz...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2018
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2018.14.1.22