Current Trends in Dravet syndrome Research
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چکیده
Copyright: © 2013 Higurashi N, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
منابع مشابه
The European patient with Dravet syndrome: Results from a parent-reported survey on antiepileptic drug use in the European population with Dravet syndrome
Dravet syndrome is a rare form of epilepsy largely refractory to current antiepileptic medications. The only precedents of randomized placebo-controlled trials in Dravet syndrome are the two small trials that led to the approval of stiripentol. With the arrival of new clinical trials for Dravet syndrome, we sought to determine the characteristics of the patient population with Dravet syndrome i...
متن کاملPhysical Education Intervention in a Child with Dravet Syndrome: A Case Study
Background. Dravet syndrome (DS) is an early-onset epileptic encephalopathy that leads to gross and fine motor skills deficits. Objectives. This study aimed to evaluate the results of a motor intervention program in a child with DS. Methods. We analyzed uma child with DS during the 3-year intervention in Physical Education. Interviews with the child’s mother and the teachers’ class diary were...
متن کاملNovel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome
In the light of modern molecular technologies, the understanding of the complexity of the numerous genotype-phenotype correlations regarding Dravet syndrome is mandatory. Motivated by 2 patients, whose whole-exome sequencing revealed novel mutations that exemplify the phenotypic and genetic heterogeneities associated with typical and atypical Dravet syndrome presentations, the authors discuss t...
متن کاملA deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients
Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A, the gene encoding neuronal sodium channel Nav1.1. Earlier studies using human induced pluripotent stem cells (iPSCs) have produced mixed results regarding the importance of Nav1.1 in human inhibitory versus excitatory neurons. We studied a Nav1.1 mutation (p.S1328P) identified in a pair ...
متن کاملAltered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome
OBJECTIVE Dravet syndrome is a severe form of intractable pediatric epilepsy with a high incidence of SUDEP: Sudden Unexpected Death in epilepsy. Cardiac arrhythmias are a proposed cause for some cases of SUDEP, yet the susceptibility and potential mechanism of arrhythmogenesis in Dravet syndrome remain unknown. The majority of Dravet syndrome patients have de novo mutations in SCN1A, resulting...
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تاریخ انتشار 2013