Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies. [PDF]
Garris J +4 more
europepmc +1 more source
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster +16 more
wiley +1 more source
Epilepsy and coeliac disease in children: a narrative review. [PDF]
Lonoce L +7 more
europepmc +1 more source
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange +4 more
wiley +1 more source
Foundational Work in Absence Epilepsy: Laying the Groundwork and Establishing the Gold-Standard. [PDF]
Fine AL.
europepmc +1 more source
Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report
Compound heterozygous variants in the POMGNT1 gene expand the genotypic spectrum of Muscle‐Eye‐Brain disease, highlighting severe epilepsy with status epilepticus. Despite long disease duration, seizure freedom was achieved with intensive antiseizure polytherapy, underscoring the importance of continued therapeutic optimization in dystroglycanopathies.
Evripidis Pityrigkas +6 more
wiley +1 more source
Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies. [PDF]
Na JH, Lee YM.
europepmc +1 more source
Patient outcomes in KCNQ2 developmental and epileptic encephalopathy
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine +9 more
wiley +1 more source
Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies. [PDF]
Zaruha AG +13 more
europepmc +1 more source
Decoding Brain Development and Function Through GABAergic Inhibitory Neurons
Interneuron subtype specification occurs case by case. Whereas some interneurons are specified very early, at the progenitor level, other interneurons develop final features during migration into the migratory stream or upon integration into specific cortical layers. The concept that interneuron specification can be significantly influenced by external
Renata Batista‐Brito +3 more
wiley +1 more source

