Results 221 to 230 of about 104,697 (299)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Absence seizures: Update on signaling mechanisms and networks

open access: yesEpilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

open access: yesNeurol Sci
Errichiello G   +10 more
europepmc   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

open access: yesEpilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira   +5 more
wiley   +1 more source

A first in disease trial of the safety, tolerability, and anti‐seizure effects of ES‐481 in drug‐resistant epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster   +16 more
wiley   +1 more source

Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy. [PDF]

open access: yesBrain
Gerstner F   +19 more
europepmc   +1 more source

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