DS
E874305
DS is a rare, severe form of epilepsy that begins in infancy and is characterized by prolonged seizures, developmental delays, and a high risk of complications.
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| Dravet syndrome | 0 |
Statements (51)
| Predicate | Object |
|---|---|
| instanceOf |
epileptic encephalopathy
ⓘ
genetic disorder ⓘ rare disease ⓘ |
| affects |
brain
ⓘ
nervous system ⓘ |
| associatedWithGene | SCN1A NERFINISHED ⓘ |
| characterizedBy |
behavioral problems
ⓘ
cognitive impairment ⓘ developmental delay ⓘ drug-resistant seizures ⓘ febrile seizures ⓘ motor impairment ⓘ prolonged seizures ⓘ |
| contraindicatedDrug |
carbamazepine
NERFINISHED
ⓘ
lamotrigine NERFINISHED ⓘ phenytoin ⓘ |
| firstDescribed | 1978 ⓘ |
| fullName | Severe myoclonic epilepsy of infancy NERFINISHED ⓘ |
| hasAbbreviation |
DS
ⓘ
SMEI NERFINISHED ⓘ |
| hasCause | SCN1A gene mutation ⓘ |
| hasComplication |
developmental regression
ⓘ
gait abnormalities ⓘ recurrent status epilepticus ⓘ sudden unexpected death in epilepsy ⓘ |
| hasRisk |
high mortality
ⓘ
injury during seizures ⓘ |
| hasSymptom |
ataxia
ⓘ
autistic features ⓘ focal seizures ⓘ generalized tonic-clonic seizures ⓘ myoclonic seizures ⓘ photosensitivity ⓘ sleep disturbances ⓘ speech delay ⓘ status epilepticus ⓘ |
| inheritancePattern | usually de novo ⓘ |
| namedAfter | Charlotte Dravet NERFINISHED ⓘ |
| onset | infancy ⓘ |
| prevalence | rare ⓘ |
| treatedWith |
cannabidiol
ⓘ
clobazam ⓘ fenfluramine ⓘ stiripentol NERFINISHED ⓘ valproate ⓘ |
| triggeredBy |
fever
ⓘ
flashing lights ⓘ heat ⓘ infection ⓘ |
| typicalCourse | lifelong ⓘ |
| typicalOnsetAge | first year of life GENERATED ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.