Results 41 to 50 of about 9,663 (193)
Эпилепсия и пароксизмальные состояния, 2019 Aim. To assess the epileptic, cognitive and autistic manifestations of agenesis of the corpus callosum (ACC) in children.Material and methods. Clinical characteristics of 31 patients (median age 6.6±0.9 years) with ACC were studied.
O. A. Milovanova +4 more
doaj +1 more source
Molecular Cytogenetics, 2020 Background Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers.
Yinghong Lu +8 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Objectives: To study the genetic and clinical characteristics of Chinese children with pathogenic proline-rich transmembrane protein 2 (PRRT2) gene-associated disorders.Methods: Targeted next generation sequencing (NGS) was used to identify pathogenic ...
Han-yu Luo +23 more
doaj +1 more source
Epilepsia, EarlyView.Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer +7 more
wiley +1 more source
Raising resilience: A parenting intervention for families affected by childhood epilepsy
Epilepsia, EarlyView.Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman +4 more
wiley +1 more source
A prospective natural history study protocol for clinical trial readiness in synaptic disorders
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee +38 more
wiley +1 more source
Autism and Epilepsy in Patients With Tuberous Sclerosis Complex
Frontiers in Neurology, 2020 Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of developing both epilepsy and autism spectrum disorder (ASD), but the relationship between these conditions is little understood.
Nicola Specchio +10 more
doaj +1 more source
WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse
Epilepsia, EarlyView.Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper +11 more
wiley +1 more source
Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort
Epilepsia, EarlyView.Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen +12 more
wiley +1 more source
Infantile spasms: A prognostic evaluation
Annals of Indian Academy of Neurology, 2016 Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology ...
Mary Iype +6 more
doaj +1 more source