Results 111 to 120 of about 14,532 (228)

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

Epilepsia, 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, Christopher H. Thompson, Susan Sotardi, Jinan Jiang, Marina Trivisano, Simona Balestrini, D. Isum Ward, Natalie Ginn, Brunetta Guaragni, Laura Malerba, Angeliki Vakrinou, Mia Sherer, Ingo Helbig, Ala Somarowthu, Sanjay M. Sisodiya, Roy Ben‐Shalom, Renzo Guerrini, Nicola Specchio, Alfred L. George Jr, Ethan M. Goldberg   +19 more
wiley   +1 more source

Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. [PDF]

, 1999
Background and rationaleInfantile spasms (IS) are an age-specific seizure disorder occurring in 1:2,000 infants and associated with mental retardation in approximately 90% of affected individuals. The costs of IS in terms of loss of lifetime productivity
Baram, TZ, Brunson, K, Haden, E, Mitchell, WG   +3 more
core  

Corticotropin (ACTH) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression. [PDF]

, 2001
The hormone corticotropin (ACTH) is employed as therapy for diverse neurological disorders, but the mechanisms for its efficacy remain unknown. ACTH promotes the release of adrenal steroids (glucocorticoids), and most ACTH effects on the central nervous ...
Adan, Baram, Baram, Baram, Baram, Baram, Baram, Baram, Brunson, Crofford, de Wied, Eghbal-Ahmadi, Fisher, Gantz, Gottlieb, Hatalski, Hauger, Hollrigel, Holmes, Hrachovy, Hrachovy, Joseph, Kask, Koo, Lee, Liang, Lightman, Lombroso, Mezey, Mountjoy, Mountjoy, Nalin, Nicholson, Pentella, Pilcher, Pranzatelli, Pranzatelli, Raber, Reul, Riikonen, Rothwell, Sapolsky, Sawchenko, Schulkin, Snead, Snead, Tsagarakis, Watson, Willig, Wu, Yi   +50 more
core   +1 more source

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

Epilepsia, 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, Morten I. Lossius, Ragnhild E. Brandlistuen, Richard F. Chin, Kari M. Aaberg   +4 more
wiley   +1 more source

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

Epilepsia, 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, James W. Wheless, Muhammad Zafar, Evelyn K. Shih, Leock Y. Ngo, Enrique Carrazana, Adrian L. Rabinowicz, for the DIAZ.001.008 Study Group   +7 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

Revista 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, Araceli Lantigua Cruz, Ramiro García García   +2 more
doaj  

Subcortical structures and infantile spasms [PDF]

Developmental Medicine & Child Neurology, 2008
Subcortical Structures and Infantile ...
openaire   +4 more sources

Long‐term efficacy and safety of cannabidiol in patients with treatment‐resistant focal epilepsies treated in the Expanded Access Program

Epilepsia, EarlyView.
Open‐label CBD treatment was associated with sustained seizure reduction through 144 weeks, with a consistent safety profile in patients with treatment‐resistant focal epilepsies, regardless of epilepsy type. Abstract Objective Cannabidiol (CBD) treatment was associated with long‐term seizure reduction in patients with various treatment‐resistant ...
Anup D. Patel, Jerzy P. Szaflarski, Paul D. Lyons, Michael Boffa, Teresa Greco, Timothy B. Saurer, Karthik Rajasekaran, Kelly C. Simontacchi, Elizabeth A. Thiele   +8 more
wiley   +1 more source

Video-EEG in Infantile Spasms

Pediatric 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

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish. [PDF]

, 2016
Mutations in the synaptic machinery gene syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to childhood epilepsies and other neurodevelopmental disorders.
Baraban, Scott C, Grone, Brian P, Hamling, Kyla R, Krasniak, Christopher S, Kumar, Maneesh G, Marchese, Maria, Patel, Manisha, Santorelli, Filippo M, Sicca, Federico   +8 more
core   +2 more sources