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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
Loading articles data…
Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
7 articles
Newest firstThis multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2-q13.1 duplication or deletion syndromes (15q-DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5 (10-22.5) years, with a median (IQR) follow-up of 21 (14-33) months. Al…
SCN1A -related disorders are the single most common monogenic cause of epilepsy and represent a major focus of precision medicine efforts. In conjunction with existing prospective studies, the analysis of real-world data obtained during routine clinical care can expand upon the scale and duration of available data and contribute to the development of meaningful outcomes for clinical trials. Here, we leveraged real…
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…
Background Highly purified Cannabidiol (CBD, epidiolex) is approved for treating Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and tuberous sclerosis (TSC), with off-label use in drug-resistant epilepsies. The aim of this study is to evaluate efficacy, safety, and long-term retention of CBD in a large pediatric population. Methods We prospectively included all consecutive patients initiating CBD for drug-re…
Objective To investigate the clinical variables that might predict the outcome of developmental and epileptic encephalopathy (DEE) after vagus nerve stimulation (VNS) therapy and identify the risk factors for poor long-term outcome. Patients and methods We retrospectively studied 32 consecutive children with drug-resistant DEE who had undergone VNS surgery from April 2019 to July 2021, which were not suitable for…
Open article record in new tab ↗Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and pathophysiologic mechanisms, including mammalian target of rapamycin (mTOR) dysregulation, GABAergic dysfunction and abnormal connectivity, may play a role in this epileptogenic process and may also contribute to the associated de…
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