CKDL5 deficiency disorder (CDD): caregiver’s perception of clinical symptoms, disease management and its impact on quality-of-life

CDD is a developmental epileptic encephalopathy condition causing severe developmental delay, epileptic seizures, important psychomotor impairment with limited communication skills from the first months of life. The objective was to better understand the burden of CDD on both patients and their family from the perspective of caregivers.