Statements (56)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:epilepsy
|
gptkbp:advocacy |
policy changes
public awareness campaigns increased funding |
gptkbp:affects |
cognitive impairment
increased risk of sudden death |
gptkbp:associated_with |
SCN1 A gene mutation
|
gptkbp:cause |
severe seizures
|
gptkbp:clinical_trial |
ongoing
investigating gene therapy investigating cannabinoids investigating new medications |
gptkbp:community |
support groups available
|
gptkbp:community_health |
sleep disorders
anxiety disorders attention deficit hyperactivity disorder autism spectrum disorder |
gptkbp:diagnosis |
genetic testing
clinical evaluation |
gptkbp:difficulty_levels |
high
|
gptkbp:first_described_by |
Charlotte Dravet
|
https://www.w3.org/2000/01/rdf-schema#label |
Dravet syndrome
|
gptkbp:impact |
social isolation
educational challenges family stress |
gptkbp:is_a_basis_for |
autosomal dominant inheritance
|
gptkbp:management |
multidisciplinary approach
|
gptkbp:outcome |
variable prognosis
lifelong condition need for ongoing care potential for improvement with age risk of comorbidities increases with age |
gptkbp:premiered_on |
infancy
6 months to 18 months |
gptkbp:prevalence |
1 in 15,700 births
|
gptkbp:public_awareness |
Dravet Syndrome Foundation
|
gptkbp:research |
ongoing
|
gptkbp:research_focus |
patient registries
genetic counseling new therapies |
gptkbp:support |
gptkb:financial_assistance
gptkb:educational_resources respite care services medical resources parent training programs |
gptkbp:symptoms |
temperature sensitivity
behavioral issues developmental delays |
gptkbp:treatment |
ketogenic diet
vagus nerve stimulation antiepileptic drugs |
gptkbp:trigger_type |
illness
fever vaccination |
gptkbp:bfsParent |
gptkb:Zygel
|
gptkbp:bfsLayer |
6
|