Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
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DOI: 10.1016/j.braindev.2020.10.004
Abstract: The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of… read more here.
Keywords: years life; study patients; patients dravet; study ... See more keywords
Impact of CYP2C19 phenotypes on clinical efficacy of stiripentol in Japanese patients with Dravet syndrome.
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DOI: 10.1097/ftd.0000000000000676
Abstract: BACKGROUND Stiripentol is a strong inhibitor of CYP2C19 and CYP3A4. This study compared the effect of stiripentol on the pharmacokinetics of clobazam and N-desmethyl-clobazam (NCLB; an active metabolite of clobazam) between different CYP2C19 phenotypes. We… read more here.
Keywords: japanese patients; cyp2c19 phenotypes; patients dravet; group ... See more keywords
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome
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DOI: 10.1097/md.0000000000013565
Abstract: Abstract Dravet syndrome is considered to be one of the most severe types of genetic epilepsy. Mutations in SCN1A gene have been found to be responsible for at least 80% of patients with Dravet syndrome,… read more here.
Keywords: related genes; patients dravet; epilepsy related; dravet syndrome ... See more keywords