Results 81 to 90 of about 9,475 (246)

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

open access: yesEpilepsia, Volume 66, Issue 3, Page 914-928, March 2025.
Abstract Objective SCN2A encodes the voltage‐gated sodium (Na+) channel α subunit NaV1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
Jérôme Clatot   +19 more
wiley   +1 more source

Estudio clínico-genético de pacientes cubanos con síndrome de West Clinical and genetic studies in Cuban patients suffering from West syndrome

open access: yesRevista de Ciencias Médicas de Pinar del Río, 2012
El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y
Anitery Travieso Téllez   +2 more
doaj  

Subcortical structures and infantile spasms [PDF]

open access: yesDevelopmental Medicine & Child Neurology, 2008
Subcortical Structures and Infantile ...
openaire   +4 more sources

Incidence of childhood and youth epilepsy: A population‐based prospective cohort study utilizing current International League Against Epilepsy classifications for seizures, syndromes, and etiologies

open access: yesEpilepsia, Volume 66, Issue 3, Page 776-789, March 2025.
Abstract Objective This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications. Methods The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy
Truls Vikin   +4 more
wiley   +1 more source

Video-EEG in Infantile Spasms

open access: yesPediatric Neurology Briefs, 2001
Early electroclinical manifestations and treatment responses were evaluated by video-EEG in 44 infants with infantile spasms.
J Gordon Millichap
doaj   +1 more source

Pharmacokinetics and 180‐day safety of diazepam nasal spray in pediatric patients with epilepsy aged 2–5 years

open access: yesEpilepsia, EarlyView.
Abstract Objective Benzodiazepine immediate‐use seizure medications (ISMs; also called rescue therapies) are used to treat seizure clusters/acute repetitive seizures in patients with epilepsy. In the United States, diazepam nasal spray is an approved ISM for patients ≥2 years of age.
Eric B. Segal   +7 more
wiley   +1 more source

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