Results 131 to 140 of about 9,895 (264)

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci   +10 more
wiley   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler   +5 more
wiley   +1 more source

Redirecting Alzheimer's disease therapeutics: Multitarget drugs and complementary non‐pharmacological strategies

open access: yesAlzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder driven by intersecting pathological processes. Persistent attrition in AD drug‐development pipelines highlights the limited clinical impact of single‐target therapies and has increased interest in multi‐target approaches acting on shared biological hubs.
Humberto Martínez‐Orozco   +4 more
wiley   +1 more source

Familial SCN1A‐Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource‐Limited Settings: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT SCN1A‐related epilepsy may present in siblings with febrile and afebrile seizures. In resource‐limited settings, diagnosis relies heavily on clinical recognition and established criteria. Early identification and avoidance of sodium channel blockers are critical, while genetic testing, when available, supports diagnosis and family counseling.
Anwar Abu Hetta   +5 more
wiley   +1 more source

Síndrome de West. [PDF]

open access: yes, 1985
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Deud, Luiz Fernando Raposo
core  

Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series

open access: yesAnnals of the Child Neurology Society, Volume 4, Issue 2, Page 145-149, June 2026.
ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

open access: yesEpilepsia, Volume 67, Issue 6, Page 3108-3121, June 2026.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing   +4 more
wiley   +1 more source

WWOX Mutation as a Rare Cause of Neonatal‐Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report

open access: yes
Journal of Paediatrics and Child Health, EarlyView.
Ozge Serce Pehlevan   +3 more
wiley   +1 more source

Evolution of the European Medicines Agency clinical guidelines for epilepsy drug development between 2010 and 2025: A comparative analysis by the ILAE Task Force on Regulatory Affairs

open access: yesEpilepsia, Volume 67, Issue 6, Page 2743-2754, June 2026.
Abstract Objective The latest European Medicines Agency (EMA) guideline on the clinical investigation of medicines to treat epileptic disorders was adopted by the EMA Committee for Medicinal Products for Human Use in 2025. We compared this guideline with the previous version (2010), highlighting areas where significant revisions were introduced ...
Stéphane Auvin   +7 more
wiley   +1 more source

Sleep magnetoencephalography enhances detection and source imaging of seizures and fast oscillations in focal cortical dysplasia

open access: yesEpilepsia, Volume 67, Issue 6, Page 2992-3008, June 2026.
Abstract Objective Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy requiring presurgical evaluation. Invasive electroencephalographic (EEG) studies demonstrate that sleep modulates epileptic activity, including interictal epileptiform discharges (IEDs), fast oscillations (FOs) in the beta (14–40 Hz) and gamma (40–80 Hz) frequency bands ...
Marcel Heers   +13 more
wiley   +1 more source

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