Results 101 to 110 of about 152,711 (286)
Epilepsia, EarlyView.Abstract Objective Epilepsy surgery is an effective treatment option for patients with medically refractory epilepsy due to mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE). The success of surgery depends on the accurate localization of the epileptogenic zone, which can be challenging due to the subtle imaging ...
Jean Khoury +7 more
wiley +1 more source
High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. [PDF]
, 1996 ObjectiveTo compare the efficacy of corticotropin (ACTH) (150 U/m2/day) and prednosone (2 mg/kg/day) given for 2 weeks, in suppressing clinical spasms and hypsarrhythmic electroencephalogram (EEG) in infantile spasms (IS).
Baram, TZ +5 more
core
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach [PDF]
, 2015 The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches
Aguiar, L. +21 more
core +3 more sources
Epilepsia, EarlyView.Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron +7 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological
Jason L. Jia +4 more
doaj +1 more source
Infantile Spasms: Opportunities to Improve Care
Seminars in neurology, 2020 Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with
Ricka Messer, K. Knupp
semanticscholar +1 more source
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]
, 2019 Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea +28 more
core +2 more sources
Epilepsia, EarlyView.Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz +10 more
wiley +1 more source
Seizure Outcome in Infantile Spasms
Pediatric Neurology Briefs, 2011 Researchers at Great Ormond Street Hospital, London, and Lingfield Centre for Epilepsy, Surrey, UK, studied retrospectively the seizure outcome of 75 children treated over an 8-year period for infantile spasms (IS) with prednisolone or vigabatrin.
J Gordon Millichap
doaj +1 more source
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 +50 more
core +1 more source