ORPHA:2382
E939683
ORPHA:2382 refers to Lennox-Gastaut syndrome, a rare, severe childhood-onset epileptic encephalopathy characterized by multiple seizure types, cognitive impairment, and a distinctive EEG pattern.
Statements (50)
| Predicate | Object |
|---|---|
| instanceOf |
epileptic encephalopathy
ⓘ
rare disease ⓘ syndrome ⓘ |
| hasAbbreviation | LGS NERFINISHED ⓘ |
| hasAgeOfOnset | between 1 and 8 years ⓘ |
| hasClinicalFeature |
atonic seizures
ⓘ
atypical absence seizures ⓘ behavioral problems ⓘ cognitive impairment ⓘ developmental regression ⓘ drop attacks ⓘ drug-resistant epilepsy ⓘ generalized tonic-clonic seizures ⓘ intellectual disability ⓘ multiple seizure types ⓘ myoclonic seizures ⓘ tonic seizures ⓘ |
| hasComplication |
behavioral disorders
ⓘ
injuries from falls ⓘ learning difficulties ⓘ status epilepticus ⓘ |
| hasCourse |
chronic
ⓘ
progressive cognitive decline ⓘ |
| hasEEGPattern |
paroxysmal fast activity during sleep
ⓘ
slow spike-and-wave discharges ⓘ |
| hasInheritance | usually sporadic ⓘ |
| hasName | Lennox-Gastaut syndrome NERFINISHED ⓘ |
| hasOnset |
childhood
ⓘ
early childhood ⓘ |
| hasPeakAgeOfOnset | 3 to 5 years ⓘ |
| hasPrevalence |
less than 5 per 10000
ⓘ
rare ⓘ |
| hasRiskFactor |
genetic epileptic encephalopathy
ⓘ
history of infantile spasms ⓘ perinatal brain injury ⓘ structural brain abnormalities ⓘ |
| hasTreatment |
cannabidiol
ⓘ
clobazam ⓘ corpus callosotomy ⓘ felbamate NERFINISHED ⓘ ketogenic diet ⓘ lamotrigine NERFINISHED ⓘ rufinamide ⓘ topiramate ⓘ vagus nerve stimulation ⓘ valproate ⓘ |
| isClassifiedAs |
developmental and epileptic encephalopathy
ⓘ
generalized epilepsy ⓘ |
| mappedTo |
MedDRA:10024370
ⓘ
OMIM:606369 ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.