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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 developmental and epileptic encephalopathy characterized by high seizure burden, treatment‐resistant epilepsy, and developmental stagnation. Family members rate communication deficits among the most impactful disease manifestations. We evaluated seizure burden and language/communication development in children with DS.
Methods
ENVISION was a prospective, observational...
The recent explosion of epilepsy genetic testing has created challenges for interpretation of gene variants. Assessments of the functional consequences of genetic variants either by predictive or experimental strategies can contribute to estimating pathogenicity, but there is no consensus on which approach is best. The Special Interest Group on Epilepsy Genetics hosted a session during the Annual...
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 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...