Results 211 to 220 of about 3,097,210 (306)

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

Communication regarding sudden unexpected death in epilepsy to people with epilepsy and their caregivers: A scoping review from the ILAE Sudden Unexpected Death in Epilepsy Task Force

open access: yesEpilepsia, EarlyView.
Abstract Discussing sudden unexpected death in epilepsy (SUDEP) is difficult and sensitive for health care providers (HCPs), people with epilepsy (PwE), and caregivers. This scoping review examines the literature on SUDEP communication, focusing on need, timing, content, methods, facilitators, barriers, and outcomes. We performed a thematic analysis to
Amir Aschner   +5 more
wiley   +1 more source

A Novel Gain-of-Function CACNA1C Variant (Gly856Asp) Associated With QT Prolongation and Sudden Death. [PDF]

open access: yesJACC Case Rep
Tadros R   +5 more
europepmc   +1 more source

Evolution of the European Medicines Agency clinical guidelines for epilepsy drug development between 2010 and 2025: A comparative analysis by the ILAE Task Force on Regulatory Affairs

open access: yesEpilepsia, EarlyView.
Abstract Objective The latest European Medicines Agency (EMA) guideline on the clinical investigation of medicines to treat epileptic disorders was adopted by the EMA Committee for Medicinal Products for Human Use in 2025. We compared this guideline with the previous version (2010), highlighting areas where significant revisions were introduced ...
Stéphane Auvin   +7 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan   +20 more
wiley   +1 more source

Sudden death from long-standing benign ventricular parasystole after atrial fibrillation ablation. [PDF]

open access: yesHeartRhythm Case Rep
Koyanagi Y   +5 more
europepmc   +1 more source

Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome

open access: yesEpilepsia, EarlyView.
Overview of the phase 3 trial evaluating soticlestat as adjunctive therapy in children and young adults with Dravet syndrome. Abstract Objective This study evaluated the efficacy, safety, and tolerability of soticlestat as adjunctive therapy in children and young adults with Dravet syndrome (DS).
Joseph Sullivan   +14 more
wiley   +1 more source

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