Burden of SCN2A- and SCN8A-related developmental and epileptic encephalopathies
1 evidence topic · 3 sources
Summary
The disease burden includes early-onset seizures, developmental impairment, and substantial treatment exposure. In a SCN2A-related disorder cohort, developmental delay or intellectual disability was present in 91 of 100 participants. In a SCN8A caregiver survey, 77% were taking at least two antiseizure medications and 50% had previously tried and stopped at least four. A separate SCN8A mortality study reported 5.3% mortality among 190 participants. These estimates come from different populations and should not be treated as a single cohort.