Unveiling sleep disturbances in <i>KCNB1</i> ‐related disorders: Insights from a cohort of 78 individuals

OBJECTIVES: Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1-related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning. METHODS: We included individuals with KCNB1-related disorders through a collaboration with KCNB1 association. Genetic, clinical, and electroencephalographic (EEG) data were collected. Caregivers completed the Sleep Disturbance Scale for Children (SDSC) and the 22-item Children's Sleep Habits Questionnaire (CSHQ) to assess sleep profiles. RESULTS: Seventy-eight patients were enrolled (42 males, 36 females; mean age 13.7 ± 9.3 years, median 11). At least one abnormal SDSC subscale score was identified in 53/78 individuals (67.9%). Disorders of initiating or maintaining sleep (DIMS) were the most frequent disorders (38/53, 71.7%). In the epilepsy subgroup, sleep problems were more common among patients receiving polytherapy (≥2 ASMs) and those with frequent seizures. Sleep disturbances were reported in 13 of 18 individuals with developmental encephalopathy (DE) (72.2%) and in 17 of 57 individuals with developmental and epileptic encephalopathy (DEE) (29.8%). SIGNIFICANCE: Sleep disturbances are highly prevalent in KCNB1-related disorders. Comprehensive and individualized care is essential to enhance quality of life and optimize seizure and developmental outcomes. PLAIN LANGUAGE SUMMARY: In this study, we characterize sleep disturbances in individuals with KCNB1-related disorders. Sleep disorders are highly prevalent in this population and can significantly impact daily functioning of the patient and his family. Early identification and personalized management are key to improving quality of life, optimizing seizure control, and supporting developmental outcomes.