developmental and/or epileptic encephalopathy with spike-wave activation in sleep
Findings
No curated finding names developmental and/or epileptic encephalopathy with spike-wave activation in sleep yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy).
Definition from the Mondo Disease Ontology (MONDO:0800501), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Continuous spike and waves during slow sleepHPOHP:0031491
- Very frequent (80% to 99% of cases)
- Interictal epileptiform activityHPOHP:0011182
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Atypical absence seizureHPOHP:0007270
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Show the remaining 18
- Focal motor seizureHPOHP:0011153
- Frequent (30% to 79% of cases)
- Focal-onset seizureHPOHP:0007359
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
- AphasiaHPOHP:0002381
- Occasional (5% to 29% of cases)
- Atonic seizureHPOHP:0010819
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GRIN2AHGNC:4585
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
22 names
Resolves to: developmental and/or epileptic encephalopathy with spike-wave activation in sleep
- Also called
- continuous slow spike and wave of sleepcontinuous spike-wave during slow sleep syndromecontinuous spike-wave in sleepcontinuous spikes and waves during sleepcontinuous spikes and waves during slow-wave sleepCSWSCSWSS syndromeDEE-SWASdevelopmental and epileptic encephalopathy with spike-wave activation in sleepEE-SWASEESWASelectrical status epilepticus of sleepelectrographic status epilepticus in sleepelectrographic status epilepticus of sleepepileptic aphasia