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Real-world effectiveness of cenobamate in drug-resistant and ultra-refractory epilepsy: A multicenter study -
OBJECTIVE: To evaluate the real-world effectiveness, safety, and treatment retention of cenobamate (CNB) in patients with drug-resistant epilepsy (DRE), including ultra-refractory epilepsy (URE), high seizure burden, and extensive prior treatment history.
Exome sequencing of pashtun familial epilepsy in Pakistan reveals novel variants in LAMA5, KCNQ2 and GNAO1 -
CONCLUSIONS: This study expands the mutational and phenotypic spectrum of epilepsy-associated genes in a highly consanguineous population and highlights the efficiency of integrating genomic, clinical, and computational approaches for variant interpretation. The findings also suggest a potential recessive contribution of genes traditionally associated with dominant inheritance, warranting furth...
Sulfonadyn Compounds: A Class of Aryl Sulfonamides That Inhibit Dynamin GTPase and Clathrin-Mediated Endocytosis and Are Antiepileptic in Animal Models -
Synthetic modification of dansylcadaverine (1) and our previously identified dynamin I and clathrin-mediated endocytosis inhibitor S1-47 gave rise to new members of the sulfonadyns class of GTP-competitive dynamin inhibitors. Analogues in this class displayed high dynamin I, dynamin II, and clathrin-mediated endocytosis inhibition (inhibition of Tfn-A594 uptake in U2OS cells). Dynamin activity ...
A first in disease trial of the safety, tolerability, and anti-seizure effects of ES-481 in drug-resistant epilepsy -
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).
Clinical, Neuroimaging, and Functional Profile of Children With Hemiplegic Cerebral Palsy: A Cross-Sectional Study From a Tertiary Care Center -
ObjectiveTo characterize the clinical profile, functional and developmental status, radiologic patterns, and comorbidity burden in children aged 1-14 years diagnosed with hemiplegic cerebral palsy (HCP) at a tertiary pediatric neurology center.MethodsThis cross-sectional study included 70 children with HCP. Functional assessments were done with the Gross Motor Function Classification System (GM...
Peri-operative management of a child with catecholamine-secreting neuroblastoma and Dravet syndrome undergoing tumour resection -
Neuroblastoma is the most common extracranial solid tumour in children and accounts for approximately 15% of paediatric cancer-related deaths. Originating from the postganglionic sympathetic nervous system, it exhibits variable clinical behaviour. Catecholamine-secreting neuroblastoma is an uncommon but relevant cause of severe hypertension in children and poses major anaesthetic challenges, pa...
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