Dravet syndrome

GPTKB entity

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