ORPHA:725
Developmental and epileptic encephalopathy with spike-wave activation in sleep
Also known as: Epileptic encephalopathy with continuous spike-and-wave during slow sleep · Epileptic encephalopathy with spike-and wave activation in sleep · CSWS · CSWSS syndrome · Continuous spikes and waves during sleep · Continuous spikes and waves during slow-wave sleep · DEE-SWAS
Publications
285
79.6th percentile
Trials
1
Interventional, condition-specific
Researchers
1,472
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Continuous spikes and waves during sleep (CSWS) is a rare epileptic of childhood characterized by , an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (2)
continuous spikes and waves during slow-wave sleep · epileptic encephalopathy with continuous spike-and-wave during slow sleep
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
285 matched papers (213 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
285
285 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
285 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
213 in the last 10 years · medium confidence · 79.6th percentile (publications denominator)
Phrase hits: 285 · MeSH hits: 0
Who's working on it?
1,472
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Møller RS11 papers · 2026
Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark.
Papers in Europe PMC - 02Auvin S9 papers · 2026
Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, 75019 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, 75019 Paris, France. Electronic address: stephane.auvin@inserm.fr.
Papers in Europe PMC - 03
- 04Syrbe S8 papers · 2026
Division of Paediatric Epileptology (J.H.D., A.K.-C., J.S., S.S.), Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg; Division of Paediatric Neurology and Metabolic Medicine (A.S., G.F.H., S.K.), Centre for Paediatric and Adolescent Medicine, University Hospital; Epilepsy Center Kork (T.B.), Kehl-Kork; Medical Faculty (T.B.), University of Freiburg, Freiburg im Breisgau; Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders (K.B.), Children's Hospital, University Medical Center, Göttingen; Department of Pediatrics (L.E.), University Medicine Mainz; Pediatric Neurology (W.F.), Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne; Institute for Molecular and Behavioral Neuroscience (W.F.), Faculty of Medicine and University Hospital Cologne, University of Cologne; Department of Neuropediatrics and Muscle Disorders (W.G.J.), Faculty of Medicine, University of Freiburg; Clinic for Neuropediatrics and Neurorehabilitation (G.K.), Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Germany; Research Institute for Rehabilitation (G.K.), Transition and Palliation, PMU Salzburg, Austria; Department of Neuropediatrics (H.M., M.P.), University Medical Center Schleswig-Holstein, Christian-Albrechts University; Institute of Clinical Molecular Biology (M.P.), Christian-Albrechts-University of Kiel, Germany; The Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Research (R.S.M.), University of Southern Denmark, Odense, Denmark; Institute of Human Genetics (K.P.), University of Leipzig Medical Center, Germany; Wilhelm Johannsen Centre for Functional Genome Research (J.L.S.), Department of Cellular and Molecular Medicine, University of Copenhagen; and Department of Biomedical Sciences (J.L.S.), University of Copenhagen, Denmark.
Papers in Europe PMC - 05
- 06Veggiotti P7 papers · 2026
Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
Papers in Europe PMC - 07Gardella E6 papers · 2026
Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.
Papers in Europe PMC - 08Guerrini R6 papers · 2026
Neuroscience Department, Meyer Children's Hospital, European Reference Network ERN EpiCARE, 50139, Florence, Italy.
Papers in Europe PMC - 09Nabbout R6 papers · 2026
European Consortium for Epilepsy Trials, ECET Ltd., Dublin, Ireland.
Papers in Europe PMC - 10Rubboli G6 papers · 2026
Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07221968·NOT YET RECRUITING·Melatonin for the Treatment of DEE-SWAS
Conditions: CSWS · Developmental and/or Epileptic Encephalopathies · Electrical Status Epilepticus in Sleep·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Developmental and epileptic encephalopathy with spike-wave activation in sleep" OR "Epileptic encephalopathy with continuous spike-and-wave during slow sleep" OR "Epileptic encephalopathy with spike-and wave activation in sleep" OR "CSWSS syndrome" OR "Continuous spikes and waves during sleep" OR "Continuous spikes and waves during slow-wave sleep" OR "DEE-SWAS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Developmental and epileptic encephalopathy with spike-wave activation in sleep" OR "Epileptic encephalopathy with continuous spike-and-wave during slow sleep" OR "Epileptic encephalopathy with spike-and wave activation in sleep" OR "CSWSS syndrome" OR "Continuous spikes and waves during sleep" OR "Continuous spikes and waves during slow-wave sleep" OR "DEE-SWAS"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CSWS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:03:25.122Z