|
gptkbp:instanceOf
|
gptkb:Epilepsy
gptkb:disease
|
|
gptkbp:affects
|
children
|
|
gptkbp:alsoKnownAs
|
severe myoclonic epilepsy of infancy
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
sleep disorders
gait abnormalities
|
|
gptkbp:complication
|
gptkb:sudden_unexpected_death_in_epilepsy_(SUDEP)
status epilepticus
|
|
gptkbp:contraindication
|
gptkb:phenytoin
gptkb:carbamazepine
gptkb:lamotrigine
|
|
gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
|
|
gptkbp:firstDescribed
|
gptkb:Charlotte_Dravet
1978
|
|
gptkbp:frequency
|
rare
|
|
gptkbp:hasOrphanetID
|
3301
|
|
gptkbp:ICD-10_code
|
G40.4
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:mortalityRate
|
high
|
|
gptkbp:mutationAssociatedWith
|
gptkb:SCN1A_gene
|
|
gptkbp:OMIM
|
607208
|
|
gptkbp:onset
|
infancy
|
|
gptkbp:prevalence
|
1 in 15,000 to 1 in 40,000 live births
|
|
gptkbp:progression
|
chronic
|
|
gptkbp:researchOrganization
|
gptkb:Dravet_Syndrome_Foundation
gptkb:International_Dravet_Syndrome_Epilepsy_Action
|
|
gptkbp:riskFactor
|
gptkb:vaccine
fever
|
|
gptkbp:symptom
|
cognitive impairment
seizures
ataxia
developmental delay
behavioral disorders
febrile seizures
|
|
gptkbp:treatment
|
gptkb:ketogenic_diet
gptkb:stiripentol
cannabidiol
antiepileptic drugs
|
|
gptkbp:bfsParent
|
gptkb:Epidiolex
gptkb:Ovid_Therapeutics
gptkb:Stoke_Therapeutics
gptkb:GABRA1_gene
gptkb:GABRG2_gene
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Dravet syndrome
|