Dravet syndrome
E275979
developmental and epileptic encephalopathy
epileptic encephalopathy
genetic disorder
neurological disorder
rare disease
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
All labels observed (2)
| Label | Occurrences |
|---|---|
| Dravet syndrome canonical | 2 |
| severe myoclonic epilepsy of infancy | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T2523476 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: Dravet syndrome Context triple: [CBD, EpidiolexIndication, Dravet syndrome]
-
A.
Huntington's chorea
Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
-
B.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
C.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
D.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
E.
PANS-OPS
PANS-OPS is an ICAO document that sets international standards and criteria for designing safe and efficient instrument flight procedures for aircraft.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: Dravet syndrome Target entity description: Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
-
A.
Huntington's chorea
Huntington's chorea is a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically manifesting in mid-adulthood.
-
B.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
C.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
-
D.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
E.
PANS-OPS
PANS-OPS is an ICAO document that sets international standards and criteria for designing safe and efficient instrument flight procedures for aircraft.
- F. None of above. chosen
Statements (78)
| Predicate | Object |
|---|---|
| instanceOf |
developmental and epileptic encephalopathy
ⓘ
epileptic encephalopathy ⓘ genetic disorder ⓘ neurological disorder ⓘ rare disease ⓘ |
| affectsCellType | GABAergic interneurons ⓘ |
| affectsProtein | Nav1.1 sodium channel ⓘ |
| affectsSystem | central nervous system ⓘ |
| firstDescribedBy | Charlotte Dravet ⓘ |
| firstDescribedInYear | 1978 ⓘ |
| hasAbbreviation | DS ⓘ |
| hasCause | SCN1A gene mutation ⓘ |
| hasComplication |
behavioral disorders
ⓘ
frequent hospitalizations ⓘ intellectual disability ⓘ recurrent status epilepticus ⓘ sudden unexpected death in epilepsy ⓘ |
| hasContraindicatedDrug |
carbamazepine
ⓘ
lamotrigine ⓘ phenytoin ⓘ vigabatrin ⓘ |
| hasCourse |
chronic
ⓘ
lifelong ⓘ |
| hasDiagnosticMethod |
SCN1A gene sequencing
ⓘ
clinical evaluation ⓘ electroencephalography ⓘ genetic testing ⓘ |
| hasEpidemiology | affects both males and females ⓘ |
| hasGeneticInheritancePattern | autosomal dominant ⓘ |
| hasGeneticMechanism | de novo mutation ⓘ |
| hasICD10Code | G40.4 ⓘ |
| hasInheritance | usually sporadic ⓘ |
| hasManagementStrategy |
rescue benzodiazepines for prolonged seizures
ⓘ
seizure action plan ⓘ |
| hasOMIMID | 607208 ⓘ |
| hasOnsetPattern | previously normal development before seizure onset ⓘ |
| hasOrphanetID | 3308 ⓘ |
| hasPrevalence | approximately 1 in 15000 to 1 in 40000 live births ⓘ |
| hasPrognosis | increased risk of premature mortality ⓘ |
| hasRisk | high seizure burden despite treatment ⓘ |
| hasSynonym |
Dravet syndrome
self-linksurface differs
ⓘ
surface form:
severe myoclonic epilepsy of infancy
|
| hasTreatment |
cannabidiol
ⓘ
clobazam ⓘ fenfluramine ⓘ ketogenic diet ⓘ stiripentol ⓘ topiramate ⓘ vagus nerve stimulation ⓘ valproate ⓘ |
| hasTrigger |
fever
ⓘ
flashing lights ⓘ infection ⓘ overheating ⓘ rapid temperature changes ⓘ vaccination-associated fever ⓘ |
| hasTypicalSeizureType |
atypical absence seizures
ⓘ
clonic seizures ⓘ focal seizures ⓘ generalized tonic-clonic seizures ⓘ hemiclonic seizures ⓘ myoclonic seizures ⓘ myoclonic-atonic seizures ⓘ tonic seizures ⓘ |
| isAssociatedWithGene | SCN1A ⓘ |
| isCharacterizedBy |
afebrile seizures
ⓘ
behavioral problems ⓘ cognitive impairment ⓘ developmental delay ⓘ drug-resistant seizures ⓘ febrile seizures ⓘ gait abnormalities ⓘ motor impairment ⓘ photosensitivity ⓘ prolonged seizures ⓘ status epilepticus ⓘ temperature sensitivity ⓘ |
| typicalAgeOfOnset |
first year of life
ⓘ
infancy ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: Dravet syndrome Description of subject: Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.
this entity surface form:
severe myoclonic epilepsy of infancy