Dravet Syndrome UK
Cycle 3
Dravet Syndrome is a rare, life-long and life limiting neurological condition. It includes seizures, intellectual disability and a range of associated health conditions known as ‘comorbidities’.
Last updated 04/30/2025
Clinical
Disease Class
Channelopathies
Body Systems
Nervous / Sensory
Organs
Brain
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
CHD2
GABRA1
GABRG2
HCN1
KCNA2
PCDH19
SCN1A
SCN2A
SCN8A
STXBP1
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal dominant
De novo
Newborn Screening
No
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Infancy (age 0-1)
Average Age at Diagnosis
Early childhood (age 1+-5)
Middle childhood (6-11)
Life Expectancy
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
Unknown
National Prevalence
1001-10000
Global Prevalence
Unknown
National Incidence
Less than 10
Global Incidence
Less than 10
Symptoms / Phenotypes
abnormal brain features
abnormal pyramidal sign
behavioral changes
developmental delay
gait abnormalities / gait disturbance
hyperactivity
intellectual disability
seizures / epilepsy
speech delay
Biomarkers
None
Existing Therapies
Complementary and Alternative treatments
· Ketogenic diet
FDA-Approved for Symptom Relief
· Antiseizure treatments: sodium valproate, clobazam, stiripentol, Cannabidiol, fenfluramine. Also Topiramate, Levetiracetam. Sodium channel blockers should not be used in DS.
Other
· VNS implant
Organizational & Research
Cell Lines
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Focus group
Meeting with regulators
Recruitment and outreach, patients
Study material design, review (not protocol)
Biobank, Institution
None
Center of Excellence, Institution
Evelina London Children's Hospital
Great Ormond Street Hospital (GOSH)
Royal Hospital for Children, Glasgow
Sheffield Children's NHS Foundation Trust
Center of Excellence, Involvement
Consulted
Registry
No, we do not have a registry and have no plans to create one
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Genetic data
Medication usage
Other
Prospective data
Platform, Natural History Study
Not specified
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
Does not have an SAB
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Europe
North America