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Objective
SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype–phenotype associations remain poorly understood.
Methods
We assessed data from a retrospective cohort of 1018 individuals with SCN1A‐related epilepsies...
Objective
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, leading to reduced health‐related quality of life (HRQOL). Prospective outcome data on HRQOL are sparse, and this study investigated long‐term predictors of HRQOL in DS.
Methods
One hundred thirteen families of SCN1A‐positive patients with DS, who were recruited as part of our 2010 study were contacted at 10‐year...
Objective
This study was undertaken to evaluate the long‐term safety and effectiveness of fenfluramine in patients with Lennox–Gastaut syndrome (LGS).
Methods
Eligible patients with LGS who completed a 14‐week phase 3 randomized clinical trial enrolled in an open‐label extension (OLE; NCT03355209). All patients were initially started on .2 mg/kg/day fenfluramine and after 1 month were titrated...
Objective
This study was undertaken to develop consensus‐based recommendations for the management of adult and pediatric patients with new onset refractory status epilepticus (NORSE)/febrile infection‐related epilepsy syndrome (FIRES) based on best evidence and experience.
Methods
The Delphi methodology was followed. A facilitator group of nine experts was established, who defined the scope, users,...
Objective
To develop consensus‐based recommendations for the management of adult and pediatric patients with new‐onset refractory status epilepticus (NORSE)/febrile infection‐related epilepsy syndrome (FIRES) based on best available evidence and expert opinion.
Methods
The Delphi methodology was followed. A facilitator group of nine experts was established who defined the scope, users, and suggestions...
The 2017 International League Against Epilepsy classification has defined a three‐tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a specific syndrome provides guidance on management and prognosis. In this paper, we describe the childhood onset epilepsy syndromes, most of which have both...
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021). We use language consistent with current accepted epilepsy and seizure classifications and incorporate knowledge from advances in genetics, electroencephalography,...
Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally accepted International League Against Epilepsy (ILAE) classification of epilepsy syndromes has existed. The ILAE Task Force on Nosology and Definitions was established to reach consensus regarding which entities fulfilled criteria for...
In 2017, the International League Against Epilepsy (ILAE) Classification of Epilepsies described the “genetic generalized epilepsies” (GGEs), which contained the “idiopathic generalized epilepsies” (IGEs). The goal of this paper is to delineate the four syndromes comprising the IGEs, namely childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized...
The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure...
Objective
We conducted a post hoc analysis of two randomized controlled trials, GWPCARE1 (NCT02091375) and GWPCARE2 (NCT02224703), to estimate the time to onset of cannabidiol (CBD) treatment effects (seizure reduction and adverse events [AEs]) in patients with Dravet syndrome (DS).
Methods
Patients received either plant‐derived highly purified CBD (Epidiolex in the United States; 100 mg/ml oral...