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Dravet syndrome (DS) and Lennox–Gastaut syndrome (LGS) are rare developmental and epileptic encephalopathies associated with seizure and nonseizure symptoms. A comprehensive understanding of how many individuals are affected globally, the diagnostic journey they face, and the extent of mortality associated with these conditions is lacking. Here, we summarize and evaluate published data on the epidemiology...
Objective
This study was undertaken to assess the safety and efficacy of fenfluramine in the treatment of convulsive seizures in patients with Dravet syndrome.
Methods
This multicenter, randomized, double‐blind, placebo‐controlled, parallel‐group, phase 3 clinical trial enrolled patients with Dravet syndrome, aged 2–18 years with poorly controlled convulsive seizures, provided they were not also...
Objective
We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy.
Methods
We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene‐level collapsing analysis...
Objective
Fenfluramine has been shown to provide clinically meaningful and statistically significant reductions in convulsive seizure frequency in children and adolescents (aged 2‐18 years) with Dravet syndrome in two randomized, placebo‐controlled clinical trials. The objective of this analysis was to assess longer‐term safety and efficacy of fenfluramine in patients who completed one of the double‐blind...
PurposeLennox‐Gastaut syndrome (LGS) is a devastating childhood‐onset epilepsy syndrome. The cause is unknown in 25% of cases. Little has been described about the specific clinical or electroencephalography (EEG) features of LGS of unknown or genetic cause (LGSu). The Epilepsy Phenome/Genome Project (EPGP) aims to characterize LGSu by phenotypic analysis of patients with LGSu and their parents.
MethodsOne...
Atypical functional magnetic resonance imaging (fMRI) language patterns may be identified by visual inspection or by region of interest (ROI)‐based laterality indices (LI) but are constrained by a priori assumptions. We compared a data‐driven novel application of principal component analysis (PCA) to conventional methods. We studied 122 fMRI data sets from control and localization‐related epilepsy...
To study the neural networks reorganization in pediatric epilepsy, a consortium of imaging centers was established to collect functional imaging data. Common paradigms and similar acquisition parameters were used. We studied 122 children (64 control and 58 LRE patients) across five sites using EPI BOLD fMRI and an auditory description decision task. After normalization to the MNI atlas, activation...
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