Responsive Neurostimulation for Treatment of Drug-Resistant Epilepsy in a Child With Dravet Syndrome.

Summary: Dravet syndrome is an intractable developmental and epileptic encephalopathy caused primarily by SCN1A haploinsufficiency, leading to impaired NaV1.1 sodium channel function and reduced inhibitory signaling. Despite treatment with antiseizure medications, many patients remain drug resistant, necessitating alternative approaches such as neuromodulation. Responsive neurostimulation (RNS), which detects and responds to abnormal brain activity in real time, has shown promise in generalized epilepsy by targeting the thalamus. Thalamic stimulation can disrupt abnormal oscillatory activity, potentially reducing seizure frequency and severity. This report presents a 7-year-old girl with Dravet syndrome in the setting of a pathogenic SCN1A variant and drug-resistant epilepsy, who experienced numerous generalized seizures daily. After extensive testing and multiple antiseizure medication trials, RNS was implanted with bilateral centromedian nucleus of the thalamus depth electrodes. At her most recent clinic visit, she exhibited a 50% to 75% reduction in seizure frequency, with resolution of myoclonic and myoclonic-atonic seizures. Her family reported significant reductions in rescue medication use, seizure duration, and seizure severity after RNS implantation. This case adds to the growing evidence supporting the use and safety of RNS in pediatric patients with drug-resistant generalized epilepsy and is the first reported instance of RNS treatment in a patient with Dravet syndrome. Although the initial results are promising, further research is needed to explore the long-term efficacy, safety, and neurodevelopmental impacts of RNS in this population. This case highlights the importance of continued research and clinical innovation in neuromodulation therapies for Dravet syndrome.