54th Child Neurology Society Annual Meeting in October at the Charlotte Convention Center Coverage

Review 5: Stiripentol Demonstrates Robust Efficacy in SCN1A-Related Developmental Epileptic Encephalopathies

Research presented by Martinez and colleagues from Barcelona provides compelling evidence for stiripentol’s therapeutic potential across the spectrum of SCN1A-related epileptic encephalopathies beyond classic Dravet syndrome. The multicenter retrospective analysis, presented at the Child Neurology Society Annual Meeting, evaluated treatment outcomes in 127 patients with confirmed SCN1A mutations who received stiripentol as adjunctive therapy over a five-year observation period.

The study population encompassed diverse phenotypes including classical Dravet syndrome, atypical presentations, and GEFS+ spectrum disorders. Participants ranged from 6 months to 42 years at treatment initiation, with median stiripentol doses of 45 mg/kg/day administered in combination with valproate and clobazam. The investigators employed comprehensive outcome measures including seizure frequency reduction, emergency department utilization, and quality of life assessments using validated scales.

Results demonstrated that 68% of patients achieved greater than 50% reduction in convulsive seizure frequency, with 31% experiencing greater than 75% reduction. Status epilepticus episodes decreased by 82% compared to pre-treatment baseline. Importantly, patients with atypical SCN1A presentations showed comparable response rates to those with classical Dravet syndrome phenotypes, suggesting broader applicability of stiripentol therapy. The treatment was particularly effective for prolonged seizures, with mean seizure duration decreasing from 18 minutes to 4 minutes.

Safety profiles remained consistent with previous reports, with somnolence and decreased appetite representing the most common adverse events. Only 8% of patients discontinued treatment due to tolerability issues. The research provides valuable real-world evidence supporting stiripentol’s role as a cornerstone therapy across the SCN1A-related epilepsy spectrum, offering hope for improved seizure control in this challenging patient population.

Reference: Martinez R, Gonzalez-Torres M, Sanchez-Carpintero R, et al. Real-World Effectiveness of Stiripentol Across the Spectrum of SCN1A-Related Epileptic Encephalopathies: A Five-Year Multicenter Analysis. Presented at: Child Neurology Society Annual Meeting; October 2025; Charlotte, NC.

Review 6: Cannabidiol Shows Promise for Behavioral Comorbidities in Dravet Syndrome

A prospective observational study by Thompson and colleagues from Sydney examined cannabidiol’s impact on non-seizure outcomes in Dravet syndrome, addressing critical quality of life factors often overshadowed by seizure management. The research, presented at the Child Neurology Society Annual Meeting, followed 89 patients with confirmed Dravet syndrome receiving pharmaceutical-grade cannabidiol for 24 months, focusing on behavioral and neurodevelopmental endpoints.

The investigators utilized standardized assessment tools including the Aberrant Behavior Checklist, Social Responsiveness Scale, and Vineland Adaptive Behavior Scales at baseline and regular intervals throughout treatment. Participants maintained stable anti-seizure medication regimens during the observation period to isolate cannabidiol’s effects on non-seizure outcomes. The cohort included children and young adults aged 2 to 25 years, with mean cannabidiol doses of 15 mg/kg/day.

Significant improvements emerged across multiple behavioral domains. Aberrant Behavior Checklist scores improved by 38% for irritability subscales and 42% for hyperactivity measures at 12 months, with gains maintained through 24 months. Social responsiveness showed meaningful enhancement in 61% of participants, particularly in social awareness and communication domains. Sleep quality, assessed through actigraphy and parent reports, improved in 73% of patients, with average sleep latency decreasing from 47 to 28 minutes.

Cognitive assessments revealed stabilization rather than decline in 78% of evaluable patients, contrasting with expected deterioration in untreated Dravet syndrome. Motor function showed modest improvements, particularly in gross motor skills and coordination. These findings highlight cannabidiol’s potential to address the broader phenotype of Dravet syndrome beyond seizure control, supporting its role in comprehensive management strategies for this complex disorder.

Reference: Thompson K, Anderson J, Davies P, et al. Beyond Seizures: Cannabidiol’s Impact on Behavioral and Neurodevelopmental Outcomes in Dravet Syndrome. Presented at: Child Neurology Society Annual Meeting; October 2025; Charlotte, NC.