Evidence map›Paper›PMID 42166541›Full record

ArticleEpilepsia open2026

Unveiling sleep disturbances in KCNB1-related disorders: Insights from a cohort of 78 individuals.

Giovanna Scorrano, Delphine Breuillard, Anais Thimon, Nicole Chemaly, Rima Nabbout

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In one paragraph

Article in Epilepsia open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Giovanna ScorranoDepartment of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of the EpiCARE European Reference Network, Paris, France.ORCID https://orcid.org/0009-0007-7504-0540
Delphine BreuillardDepartment of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of the EpiCARE European Reference Network, Paris, France.ORCID https://orcid.org/0009-0000-6317-900X
Anais ThimonDepartment of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of the EpiCARE European Reference Network, Paris, France.
Nicole ChemalyDepartment of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of the EpiCARE European Reference Network, Paris, France.
Rima NabboutDepartment of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker Enfants Malades University Hospital, AP-HP, Full Member of the EpiCARE European Reference Network, Paris, France.ORCID https://orcid.org/0000-0001-5877-4074

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesSleep 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.

methodsWe 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.

resultsSeventy-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.

Indexed as

EpilepsyShab Potassium ChannelsSleep Wake DisordersAdolescentChildChild, PreschoolCohort StudiesElectroencephalographyFemaleHumansMalePrevalenceSurveys and QuestionnairesYoung AdultKCNB1 protein, humanShab Potassium Channelsdevelopmental and epileptic encephalopathyepilepsyKCNB1‐related disordersneurodevelopmental disorderssleep disturbances

Identifiers

PMID42166541
PMCPMC13394548

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.