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Find video protocols related to scientific articles indexed in Pubmed.
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The timing of pediatric epilepsy syndromes: What are the developmental triggers?
Ann. N. Y. Acad. Sci.
PUBLISHED: 11-28-2013
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Pediatric epilepsy is characterized by multiple epilepsy syndromes with specific developmental triggers. They initiate spontaneously at critical periods of development and can just as spontaneously remit. Accompanying neurocognitive disabilities are often specific to the epileptic syndrome. Infantile or epileptic spasms have a very specific developmental window in the first year of life. Preceding the epilepsy, developmental arrest is common. The neurologic pathways underlying the development of spasms have been identified through PET scans as developmental abnormalities of serotonergic and GABAergic neurotransmitter systems in the brain stem and basal ganglia. Childhood absence epilepsy (CAE) and benign centrotemporal epilepsy syndrome (BECTS) are both known genetic epilepsy syndromes; they have a discrete onset in childhood with remission by puberty. In CAE, disturbances of specific calcium channels at key developmental stages lead to aberrant disruption of thalamocortical synchrony. Similarly, a complex interplay between brain development, maturation, and susceptibility genes underlies the seizures and the neurocognitive deficits of BECTS.
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The epilepsy phenome/genome project.
Clin Trials
PUBLISHED: 07-01-2013
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Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy.
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De novo mutations in epileptic encephalopathies.
Nature
PUBLISHED: 03-03-2013
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Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ?4,000 genes that are the most intolerant to functional genetic variation in the human population (P = 2.9?×?10(-3)). Among these are GABRB3, with de novo mutations in four patients, and ALG13, with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1?×?10(-10) and P = 7.8?×?10(-12), respectively. Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P?
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Similar response to anti-epileptic medications among epileptic siblings.
Epilepsy Res.
PUBLISHED: 05-17-2011
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When epilepsy does not respond to the initial anti-epileptic drug (AED) the subsequent search for an effective AED is predominantly a matter of trial and error, as only limited criteria exist for rational AED selection. Since epilepsy in siblings is likely to be relatively homogeneous, we hypothesized that an AED effective in one sibling would also be effective in the other.
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Magnetic resonance imaging abnormalities associated with vigabatrin in patients with epilepsy.
Epilepsia
PUBLISHED: 02-28-2009
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Vigabatrin used to treat infantile spasms (IS) has been associated with transient magnetic resonance imaging (MRI) abnormalities. We carried out a retrospective review to better characterize the frequency of those abnormalities in IS and in children and adults treated with vigabatrin for refractory complex partial seizures (CPS).
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Clobazam in the treatment of Lennox-Gastaut syndrome.
Epilepsia
PUBLISHED: 01-28-2009
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This randomized, double-blind, dose-ranging study evaluated safety and efficacy of clobazam (CLB) as adjunctive therapy for drop seizures in patients with Lennox-Gastaut syndrome (LGS).
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Long-term safety and efficacy of clobazam for Lennox-Gastaut syndrome: interim results of an open-label extension study.
Epilepsy Behav
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In an ongoing open-label extension (OV-1004), patients with Lennox-Gastaut syndrome who had completed 1 of 2 randomized controlled trials (OV-1002 [Phase II] or OV-1012 [Phase III]) are receiving clobazam at dosages ?2.0 mg/kg/day (?80 mg/day). Of 306 eligible patients from OV-1002 or OV-1012, 267 entered the open-label extension. As of the interim date, July 1, 2010, 213 patients (79.8%) had remained in the trial, and 189 had received clobazam for ?12 months, 128 for ?18 months, and 94 for ?24 months. Median percentage decreases in average weekly rates of drop seizures were 71.1% and 91.6% at Months 3 and 24. Mean modal and mean maximum daily dosages were 0.94 mg/kg and 1.22 mg/kg for those who had received clobazam for ?1 year. The 4 most common adverse events were upper respiratory tract infection (18.4%), fall (14.2%), pneumonia (13.9%), and somnolence (12.7%). Clobazams adverse event profile was consistent with its profile in controlled trials.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

How does it work?

We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

Video X seems to be unrelated to Abstract Y...

In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.