Results 101 to 110 of about 132,025 (234)
Developmental Medicine &Child Neurology, EarlyView.Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes +6 more
wiley +1 more source
Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16312 Abstract Aim To characterize autism and co‐occurring tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.
Rebecca A. Mitchell +4 more
wiley +1 more source
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
Infantile spasms: A prognostic evaluation
Annals of Indian Academy of Neurology, 2016 Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome.We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with ...
Shahanaz M. Ahamed +6 more
openaire +4 more sources
Optimized Treatment for Infantile Spasms: Vigabatrin versus Prednisolone versus Combination Therapy
Journal of Clinical Medicine, 2019 Hormone therapies and vigabatrin are first-line agents in infantile spasms, but more than one-third of patients fail to respond to these treatments. This was a retrospective study of patients with infantile spasms who were treated between January 2005 ...
J. Hahn +6 more
semanticscholar +1 more source
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 +19 more
wiley +1 more source
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 +2 more
doaj
Subcortical structures and infantile spasms [PDF]
Developmental Medicine & Child Neurology, 2008 Subcortical Structures and Infantile ...
openaire +4 more sources
MBOAT7 encephalopathy: Characterizing the neurology and epileptology
Epilepsia, EarlyView.Abstract Objective Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention‐deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.
Sebastian Ortiz De la Rosa +28 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli +68 more
wiley +1 more source