Impact on Family Scale:•The most impacted areas are “experience with the illness” and “economic burden”.Similar impact between variants on all subscales, but highest overall impact on the TSC variant.Impact of Paediatric Epilepsy Scalee:•TSC shows a greater impact than STXBP1 and SYNGAP1.•The most affected items included children's school and academic activity, number of activities, social life and acceptance, child's friends and peers, relationships with parents and general health. The gene discussed is STXBP1; the disease is tuberous sclerosis.