Does long‐term phenytoin have a place in Dravet syndrome?
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DOI: 10.1002/acn3.51684
Abstract: Anti‐seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium‐channel blocker phenytoin, which is often used for status epilepticus, a frequent feature of Dravet… read more here.
Keywords: long term; syndrome long; term phenytoin; dravet syndrome ... See more keywords
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype
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DOI: 10.1002/epi4.12281
Abstract: We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles. read more here.
Keywords: autism spectrum; spectrum disorder; dravet syndrome;
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program
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DOI: 10.1002/epi4.12624
Abstract: To examine the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) in three age groups: read more here.
Keywords: efficacy safety; real world; dravet syndrome; safety fenfluramine ... See more keywords
Current Treatment Strategies and Future Treatment Options for Dravet Syndrome
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DOI: 10.1007/s11940-018-0537-y
Abstract: Purpose of reviewDravet syndrome is a rare but severe genetic epilepsy that has unique treatment challenges. This is a review of current and future potential treatment options.Recent findingsTreatment for Dravet syndrome should encompass many aspects… read more here.
Keywords: treatment; current treatment; treatment options; treatment strategies ... See more keywords
Highly Purified Cannabidiol for Epilepsy Treatment: A Systematic Review of Epileptic Conditions Beyond Dravet Syndrome and Lennox–Gastaut Syndrome
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DOI: 10.1007/s40263-021-00807-y
Abstract: Cannabidiol (CBD), which is one major constituent of the Cannabis sativa plant, has anti-seizure properties and does not produce euphoric or intrusive side effects. A plant-derived, highly purified CBD formulation with a known and constant… read more here.
Keywords: epilepsy; highly purified; cbd; treatment ... See more keywords
Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants
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DOI: 10.1016/j.braindev.2019.10.005
Abstract: AIM Dravet syndrome (DS) is characterized by high epilepsy-related premature mortality with a markedly young age at death, however, autopsy report of sudden unexpected death with DS has been fewer than expected. METHODS We report… read more here.
Keywords: death; unexpected death; case; dravet syndrome ... See more keywords
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
Serotonin abnormalities in Dravet syndrome mice before and after the age of seizure onset
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DOI: 10.1016/j.brainres.2019.146399
Abstract: Dravet syndrome (DS) is a genetic form of severe epilepsy often associated with mutation of the SCN1A gene encoding the voltage gated sodium channel Nav1.1. Typically refractive to conventional therapy, serotonin neurotransmission may be an… read more here.
Keywords: age seizure; dravet syndrome; serotonin; mice ... See more keywords
Atypical myelinogenesis and reduced axon caliber in the Scn1a variant model of Dravet syndrome: An electron microscopy pilot study of the developing and mature mouse corpus callosum
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DOI: 10.1016/j.brainres.2020.147157
Abstract: Dravet Syndrome (DS) is a genetic neurodevelopmental disease. Recurrent severe seizures begin in infancy and co-morbidities follow, including developmental delay, cognitive and behavioral dysfunction. A majority of DS patients have an SCN1A heterozygous gene mutation.… read more here.
Keywords: microscopy; corpus callosum; pilot; electron microscopy ... See more keywords
Targeted Augmentation of Nuclear Gene Output (TANGO) of Scn1a rescues parvalbumin interneuron excitability and reduces seizures in a mouse model of Dravet Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Brain Research"
DOI: 10.1016/j.brainres.2021.147743
Abstract: Dravet Syndrome (DS) is a severe developmental and epileptic encephalopathy typically caused by loss-of-function de novo mutations in the SCN1A gene which encodes the voltage-gated sodium channel isoform NaV1.1. Decreased NaV1.1 expression results in impaired… read more here.
Keywords: excitability; targeted augmentation; gene; dravet syndrome ... See more keywords
Dravet Syndrome: A Sodium Channel Interneuronopathy.
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DOI: 10.1016/j.cophys.2017.12.007
Abstract: Dravet Syndrome is a devastating childhood epilepsy disorder with high incidence of premature death plus comorbidities of ataxia, circadian rhythm disorder, impaired sleep quality, autistic-like social-interaction deficits and severe cognitive impairment. It is primarily caused… read more here.
Keywords: sodium channel; syndrome sodium; dravet syndrome;