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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
10 articles
Newest firstBackground and objective Lafora disease (LD) is a rare progressive disorder caused by mutations in the EPM2A or EPM2B genes, characterized by the accumulation of Lafora bodies, drug-resistant epilepsy, and cognitive decline. To investigate the early molecular mechanisms of LD, we studied electrophysiological changes in the dentate gyrus (DG) of the Epm2aR240X knock-in mouse model at various ages. Methods Electroph…
Open article record in new tab ↗Drug development for developmental and epileptic encephalopathies (DEEs) follows different strategies on one hand including disease-targeting precision medicine approaches considering the genetic variants and pathomechanisms in DEEs and on the other hand including therapeutic approaches with novel targets or second-generation drug candidates that may be of interest beyond selected DEEs. Although the first group of…
Open article record in new tab ↗Objective This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment response. Methods This study was conducted across 27 epilepsy centers and inclu…
Objective This study aimed to analyze the choice of newly introduced antiseizure medications (ASMs; brivaracetam, cannabidiol, cenobamate, fenfluramine, and perampanel) by age and sex, and the use of these ASMs in relation to regulatory approval. Methods Patients were identified with dispensation of any ASM subsequent to at least one health care contact due to epilepsy (International Classification of Diseases, 10…
Open article record in new tab ↗Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug-resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X-linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of premature mortality. We evaluated the therapeutic potential of highly purifie…
Objective Cannabidiol (CBD) treatment was associated with long-term seizure reduction in patients with various treatment-resistant epilepsies who participated in the CBD Expanded Access Program. A phase 3 trial showed CBD effectively treats tuberous sclerosis complex (TSC)-associated seizures, which are primarily of focal origin. However, the effectiveness of CBD in non-TSC focal epilepsies is not well reported. H…
Objective To estimate the timing of cannabidiol (CBD) treatment effect (seizure reduction and adverse events [AEs]) onset, we conducted a post hoc analysis of GWPCARE6 (NCT02544763), a randomized, placebo-controlled, phase 3 trial in patients with drug-resistant epilepsy associated with tuberous sclerosis complex (TSC). Methods Patients received plant-derived pharmaceutical formulation of highly purified CBD (Epid…
Objective Cannabidiol (CBD) has been approved by the US Food and Drug Administration (FDA) to treat intractable childhood epilepsies, such as Dravet syndrome and Lennox-Gastaut syndrome. However, the intrinsic anticonvulsant activity of CBD has been questioned due to a pharmacokinetic interaction between CBD and a first-line medication, clobazam. This recognized interaction has led to speculation that the anticonv…
Objective Add-on cannabidiol (CBD) significantly reduced seizures associated with Dravet syndrome (DS) in a randomized, double-blind, placebo-controlled trial: GWPCARE1 Part B (NCT02091375). Patients who completed GWPCARE1 Part A (NCT02091206) or Part B, or a second placebo-controlled trial, GWPCARE2 (NCT02224703), were invited to enroll in a long-term open-label extension trial, GWPCARE5 (NCT02224573). We present…
Objective Epilepsy is a progressive neurological disease characterized by recurrent seizures and behavioral comorbidities. We investigated the antiseizure effect of cannabidiol (CBD) in a battery of acute seizure models. Additionally, we defined the disease-modifying potential of chronic oral administration of CBD on associated comorbidities in the reduced intensity status epilepticus-spontaneous recurrent seizure…