A 36 question online survey was developed to obtain de-identified caregiver-reported data from caregivers of children with SCN8A-related epilepsy, including SCN8A-DEE. The survey investigated demographics, comorbidities, seizure onset and frequency, anti-seizure medication (ASM) use and confidence in seizure counting. Fifty-four caregivers completed the survey; however, the study is still open and collecting additional responses.  

Caregivers reported a variable age of seizure onset, typically within the first months of life. At seizure onset, around a third of patients experienced multiple, daily seizures that were most commonly initially treated with levetiracetam and phenobarbital. Around 50% of caregivers reported a negative effect of treatment with levetiracetam. Age of respondents ranged from infancy to adulthood, with the majority being at least 4 years of age. The current seizure frequency was variable ranging from several per day to seizure freedom in ~25% of the patients. The most frequent currently used ASMs were clobazam and oxcarbazepine. Cognitive impairment, movement disorders, gastrointestinal problems and visual impairment were highly prevalent. Around 60% of caregivers reported they had received training including instruction in seizure recognition by their child’s neurology team, and were highly confident in identifying their child’s seizures.