Management of Developmental and Epileptic Encephalopathies

Seminars in Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 24, 2025

Abstract Developmental and epileptic encephalopathies (DEEs) are a group of rare, severe, early-onset epilepsies characterized by pharmacoresistance, marked electroencephalographic abnormalities, delayed or regressive psychomotor development. DEEs associated with poor long-term outcomes increased mortality; however, early recognition targeted treatment can impact neurodevelopmental overall quality life. Treatment antiseizure medication is often challenging given drug resistance, chronic polypharmacy, interactions. With advances in genetic testing understanding the neurobiological mechanisms DEEs, approach evolving includes repurposed medications therapies, as well surgical intervention select patients. In addition to high seizure burden delay, comorbidities affecting range body systems; these include intellectual disability, psychiatric disorders, motor dysfunction, respiratory gastrointestinal problems. Over time, increase complexity management have important implications on disease life for both patients their caregivers. Multidisciplinary care paramount. We summarize current evidence specific focusing therapies optimizing outcomes.

Language: Английский

Long-Term Seizure Reduction Associated with Vagal Nerve Stimulation in Dravet Syndrome

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 6, 2025

SCN1A variants cause a range of epilepsy syndromes, including Dravet syndrome, leading to early cognitive and functional impairment. Despite advances in medical management, drug-resistant remains common. Vagal nerve stimulation (VNS) has been suggested reducing seizure frequency these patients but there is lack long-term follow-up, quantitative analysis that corrected for confounding factors such as antiseizure medications (ASMs) the impact VNS settings on response. This two-center, retrospective cohort study analyzed 12-month first time up ten-year outcomes therapy-refractory with loss-of-function (93.75% Syndrome) who underwent implantation. A ≥50% reduction was observed 93.75% (15/16) 87.5% (14/15) period. Median significantly lower both follow-up periods than pre-implantation Linear mixed-effects regression showed burden independent ASM use, duty cycle associated reduction. Three individuals (18.8%) experienced minor side effects. Our results highlight benefits genotype-driven therapeutic interventions -related epilepsy. emphasizes need further implementation clinical decision-making.

Language: Английский