Results 91 to 100 of about 152,711 (286)
Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]
, 2013 The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia +6 more
core
Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]
, 2010 In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio +7 more
core +1 more source
Epilepsia, EarlyView.Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz +73 more
wiley +1 more source
Mortality in infantile spasms: A hospital‐based study
Epilepsia, 2020 To determine risk factors and causes for mortality during childhood in patients with infantile spasms (IS). We describe the overall goals of care for those who died.
C. Harini +13 more
semanticscholar +1 more source
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
Epilepsia, EarlyView.Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan +23 more
wiley +1 more source
Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms
Children, 2020 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 IS remains incompletely understood, despite the heterogeneity of
Remi Janicot, Li-Rong Shao, C. Stafstrom
semanticscholar +1 more source
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. [PDF]
, 2017 To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpileptic encephalopathies are a group of childhood epilepsies that display high
Arnadottir, Gudny A +19 more
core +1 more source
Epilepsia, EarlyView.Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras +6 more
wiley +1 more source
Jornal de PediatriaObjective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil.
Marília Barbosa de Matos +6 more
doaj +1 more source
Risk for infantile spasms after acute symptomatic neonatal seizures
Epilepsia, 2020 Infantile spasms (IS) is a severe epilepsy in early childhood. Early treatment of IS provides the best chance of seizure remission and favorable developmental outcome.
Hannah C. Glass +11 more
semanticscholar +1 more source