Abstract Mutations in Munc18‐1/STXBP1 (syntaxin‐binding protein 1) are linked to various
severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous …

Objective Infantile spasm (IS) is a convulsive disease characterized by brief, symmetric axial
muscle contraction (neck, trunk, and/or extremities). IS is a type of seizure that was first …

Objective Cannabidiol (CBD) has been shown to reduce seizures among patients with
refractory epilepsies of various etiologies in recent clinical trials and an expanded access …

The gene KCNT1 encodes the sodium-activated potassium channel KNa1. 1 (Slack, Slo2.
2). Variants in the KCNT1 gene induce a gain-of-function (GoF) phenotype in ionic currents …

Heterozygous de novo mutations in the neuronal protein Munc18-1/STXBP1 cause
syndromic neurological symptoms, including severe epilepsy, intellectual disability …

Infantile spasms are a catastrophic form of pediatric epilepsy with inadequate treatment. In
patients, mutation of ARX, a transcription factor selectively expressed in neuronal precursors …

Objective We investigated temporal and spatial characteristics of ictal gamma and beta
activity on scalp EEG during spasms in patients with West syndrome (WS) to evaluate …

West syndrome (WS) is an early life epileptic encephalopathy associated with infantile
spasms, interictal electroencephalography (EEG) abnormalities including high amplitude …

Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic
features, which affects children in the middle of the first year of life. The pathophysiology of …

Objective Infantile epileptic spasms (IS) are epileptic seizures that are associated with
increased risk for developmental impairments, adult epilepsies, and mortality. Here, we …