ORPHA:725
Developmental and epileptic encephalopathy with spike-wave activation in sleep
Synonyms: 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
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental and epileptic encephalopathy with spike-wave activation in sleep | 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 |
| fr | Encéphalopathie épileptique et développementale avec activation des pointe-ondes dans le sommeil | CSWS · EEPOCS · EPOCS · Encéphalopathie épileptique avec pointe-continues du sommeil · Encéphalopathie épileptique avec pointes-ondes continues au cours du sommeil lent · Epilepsie avec pointes-ondes continues pendant le sommeil lent · Syndrome CSWSS · Syndrome POCS · Syndrome des pointes-ondes continues du sommeil · Syndrome des pointes-ondes continues pendant le sommeil lent |
| de | Epilepsie mit kontinuierlichen Spike-Wave-Entladungen im Schlaf | Bioelektrischer Status epilepticus im Schlaf · CSWS · CSWS-Syndrom · DEE-SWAS · ESES-Syndrom · Entwicklungsbedingte und epileptische Enzephalopathie mit Spike-Wave-Aktivierung im Schlaf · Epileptische Enzephalopathie mit kontinuierlichen Spike-Wave-Entladungen im Slow-Wave-Schlaf |
| es | Encefalopatía epiléptica y del desarrollo con activación de punta-onda durante el sueño | CSWS · DEE-SWAS · Encefalopatía epiléptica con activación de punta-onda durante el sueño · Encefalopatía epiléptica con punta-onda continua durante el sueño lento · Punta-onda continua durante el sueño lento · Puntas y ondas continuas durante el sueño · Síndrome CSWSS |
| it | Encefalopatia epilettica e dello sviluppo con attivazione di punte-onda durante il sonno | DEE-SWAS · Encefalopatia epilettica con attivazione di punte- onda durante il sonno · CSWS · Encefalopatia epilettica con punte-onde continue durante il sonno lento · Punte e onde continue durante il sonno ad onde lente · Sindrome CSWSS · Punte e onde continue durante il sonno |
| nl | Ontwikkelings- en epileptische encefalopathie met activatie van piekgolven tijdens de slaap | Epileptische encefalopathie met activatie van piekgolven tijdens de slaap · Epileptische encefalopathie met continue piekgolven tijdens de trage slaap · CSWS · CSWSS-syndroom · Continue piekgolven tijdens de slaap · Continue piekgolven tijdens de tragegolfslaap · DEE-SWAS |
| pt | Encefalopatia epiléptica e do desenvolvimento com ativação de pico-onda durante o sono | CSWS · DEE-SWAS · Encefalopatia epiléptica com ativação de picos e ondas durante o sono · Encefalopatia epiléptica com picos e ondas contínuos durante o sono lento · Picos e ondas contínuas durante o sono · Picos e ondas contínuas durante o sono de ondas lentas · Síndrome CSWS |
| pl | Zespół ciągłych wyładowań podczas snu wolnofalowego | CSWS · Encefalopatia padaczkowa z ciągłymi wyładowaniami podczas snu wolnofalowego · Wyładowania ciągłe i fale podczas snu wolnofalowego · Zespół CSWSS |
| cs | Kontinuální hroty a vlny během spánku | CSWS · CSWSS syndrom · Kontinuální hroty a vlny během hlubokého spánku · Epileptická encefalopatie s kontinuálními hroty a vlnami během spánku |
| uk | Постійна пік-хвильова активність під час сну | Безперервні піки та хвилі під час повільного сну · CSWS · Синдром CSWSS · Епілептична енцефалопатія з безперервними пік-хвилями під час повільного сну |
| zh | 睡眠中脑电图持续尖峰/波浪 | 癫痫性脑病伴慢波睡眠中脑电图持续尖峰/波浪 |
| tr | Uyku sırasında sürekli yükselen ve dalgalanmalar | CSWS · CSWSS sendromu · Yavaş dalga uykusu sırasında devam eden yükselmeler ve dalgalar · Yavaş uyku sırasında devamlı yükselen ve dalgalı epileptik ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245570 | NTBT | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | 8A62.Y | NTBT | index | validated |
| MONDO | 0019123 | E | validated | |
| UMLS | C5552731 | E | validated | |
| GARD | 1513 | E | validated | |
| MedDRA | 10078827 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:4585 | ENSG00000183454 | 138253 | 16p13.2 | glutamate ionotropic receptor NMDA type subunit 2A | 27683935[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
30 annotations · validated 2021-01-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031491 | Continuous spike and waves during slow sleep | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0007270 | Atypical absence seizure | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100543 | Cognitive impairment | |
| HP:0002376 | Developmental regression | |
| HP:0012557 | EEG with centrotemporal focal spike waves | |
| HP:0012010 | EEG with frontal focal spike waves | |
| HP:0002349 | Focal aware seizure | |
| HP:0006813 | Focal hemiclonic seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011153 | Focal motor seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002381 | Aphasia | |
| HP:0010819 | Atonic seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0002312 | Clumsiness | |
| HP:0001332 | Dystonia | |
| HP:0012001 | EEG with generalized polyspikes | |
| HP:0002266 | Focal clonic seizure | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0002333 | Motor deterioration | |
| HP:0011150 | Myoclonic absence | |
| HP:0001345 | Psychotic mentation | |
| HP:0011098 | Speech apraxia | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0011147 | Typical absence seizure | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33132036[PMID]_27683935[PMID]_31262717[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/725
- This record as JSON: /data/d/725.json