Panelists discuss how early recognition of Dravet syndrome's key clinical features—including prolonged seizures triggered by fever or illness in the first year of life, the importance of genetic testing for SCN1A variants, and the progressive nature of the condition that evolves from initial febrile seizures to multiple seizure types alongside developmental delays—can support timely diagnosis and improve long-term outcomes for pediatric patients.
Panelists discuss how SCN1A genetic testing has enabled earlier diagnosis of Dravet syndrome, though some clinicians still hesitate to order tests due to discomfort with genetics, emphasizing that early genetic confirmation is crucial for avoiding contraindicated sodium channel medications, implementing appropriate treatments, and providing families with answers and community connections that improve long-term outcomes.
Panelists discuss how patients with Dravet syndrome face elevated sudden unexplained death in epilepsy (SUDEP) risk compared with other epilepsy populations, emphasizing the importance of early family education about risk factors such as convulsive seizures and medication adherence, while highlighting that newer therapies show promise in reducing both seizure frequency and SUDEP risk through better seizure control and decreased status epilepticus occurrence.
Panelists discuss how the treatment paradigm for Dravet syndrome has dramatically shifted with newer FDA-approved medications (cannabidiol, stiripentol, and fenfluramine) now recommended as first- and second-line therapies alongside traditional options such as valproate and clobazam, emphasizing that these novel mechanisms offer distinct advantages and should be used early rather than as last-resort treatments, with risk evaluation and mitigation strategies (REMS) programs and specialty pharmacies actually improving patient access and monitoring.
Panelists discuss how treatment selection for Dravet syndrome requires individualized approaches based on seizure types and patient characteristics, emphasizing the importance of striving for seizure freedom, avoiding contraindicated sodium channel medications, utilizing synergistic drug combinations when appropriate, and simplifying medication regimens to twice-daily dosing with clear timing cues to improve family adherence to complex treatment plans.
Panelists discuss how newer medications such as stiripentol have become preferred over traditional options such as valproate for younger patients, emphasizing the importance of assessing treatment effectiveness within 6 to 8 weeks rather than accepting "pretty good" seizure control, and encouraging frequent communication with families to optimize therapy and pursue meaningful seizure reduction rather than settling for partial improvements.
Panelists discuss how despite newer medications such as cannabidiol, stiripentol, and fenfluramine being available for several years and recommended as first-line therapies, claims data reveals that only 7% to 25% of patients with newly diagnosed Dravet syndrome receive these treatments, with many clinicians still defaulting to older, less effective medications due to lack of practical guidance on dosing and titration protocols for the newer therapies.
Panelists discuss how promising disease-modifying therapies including antisense oligonucleotide and viral vector treatments are currently in clinical trials and target the underlying SCN1A gene defect, rather than just treating seizure symptoms, showing encouraging results in seizure reduction and nonseizure outcomes such as language development, though these therapies will likely complement rather than replace existing medications when they become available in several years.
Panelists discuss how improving adoption of newer Dravet syndrome therapies requires early genetic testing by general neurologists who should then collaborate with specialized centers of excellence, maintaining local neurologist relationships for ongoing care while leveraging expert guidance on appropriate medication selection, dosing, and management to ensure patients receive optimal treatment regardless of their geographic location.
