Abstracts

KCNT1-related epilepsy is a rare, early-onset, treatment-resistant epileptic encephalopathy associated with severe developmental impairment and comorbidities. While the clinical burden is well recognized, the full scope of its economic impact remains poorly characterized. This study evaluates the annual economic burden of KCNT1-related epilepsy through analysis of caregiver-reported expenses and healthcare utilization data extracted from electronic medical records (EMRs).

We conducted a retrospective cohort study using two data sources. Caregiver-reported cost data were collected via a March 2025 online survey (n=34) distributed through the KCNT1 Epilepsy Foundation’s registry. EMR data were extracted from 49 U.S.-based patients with confirmed KCNT1 variants in the EMR database. We assessed direct medical costs (e.g., hospitalizations, medications, procedures), indirect costs (e.g., lost income, caregiving), and non-medical costs (e.g., home modifications, nutritional needs). Cost estimates were derived using CPT/HCPCS codes, CMS Physician Fee Schedule, GoodRx retail prices, and DMECS data. Data were analyzed using Microsoft Excel and GraphPad Prism.

Survey data revealed high rates of insurance coverage (97%), yet over half of respondents (56%) reported only partial coverage of essential treatments. Financial hardship due to medical costs was reported by 53% of families. Indirect costs, including job loss or reduction in work hours due to caregiving responsibilities, emerged as major financial stressors. EMR analysis showed that the average first-year medical cost per patient was $154,389, with total cohort costs of $6.2M. Hospitalizations accounted for the largest cost burden and declined by >50% in the second year. Use of durable medical equipment sharply increased in year two and remained elevated for four years. Medication and diagnostic costs were highest in the first year and gradually declined thereafter.

KCNT1-related epilepsy imposes a substantial economic burden on families and healthcare systems, particularly in the first year post-diagnosis. While hospitalizations are the primary driver of cost initially, long-term care needs—especially durable medical equipment and caregiving—sustain the financial impact. These findings underscore the urgent need for disease-modifying therapies, improved insurance coverage, and policy initiatives to alleviate the burden on affected families. Further research should explore long-term cost trajectories and economic comparisons across rare epileptic encephalopathies.