Results 231 to 240 of about 762,477 (313)

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

Stiripentol: Unpublished results from the first phase 2 clinical trial in Lennox–Gastaut syndrome conducted in the early 1990s

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to present the results of an exploratory phase 2 trial of stiripentol in Lennox–Gastaut syndrome (LGS). Methods This exploratory single‐blind, single‐arm, nonrandomized sequential‐period phase 2 study was conducted at four centers in France between January 1989 and August 1993.
Stéphane Auvin   +3 more
wiley   +1 more source

ARDS and corticosteroids: beyond COVID-19. [PDF]

open access: yesPneumonia (Nathan)
Esperatti M, Olmos M, Fuentes N.
europepmc   +1 more source

Increased interval between seizure clusters across time in pediatric patients treated with the immediate‐use seizure medication diazepam nasal spray

open access: yesEpilepsia, EarlyView.
Abstract Objective Seizure clusters, intermittent increases in seizure activity that differ from a patient's usual seizure pattern, may occur despite treatment with a daily anti‐seizure medication. Benzodiazepine‐containing immediate‐use seizure medications (ISMs; also called rescue therapies) are the cornerstone of treatment for seizure clusters ...
James W. Wheless   +8 more
wiley   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

open access: yesEpilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir   +21 more
wiley   +1 more source

Progressive myoclonus epilepsy in Down syndrome with Alzheimer's disease: An 11‐year longitudinal study and proposed diagnostic red flags

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi   +6 more
wiley   +1 more source

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