Dravet Syndrome is a genetic disorder of Chromosome 2 usually affecting a gene called SCN1A, causing epilepsy and other neurological and developmental problems. Dravet Syndrome accounts for 1% of the epilepsy population.
The condition gets its name from the doctor who first recognised and described it - Dr Charlotte Dravet.
Dr. Charlotte Dravet
How common is Dravet Syndrome?
%
of cases are inherited
in Canada will get Dravet Syndrome
%
of cases are random
1 in
are born with Dravet Syndrome
%
of people with Dravet Syndrome have an SCN1A mutation. Of these, 95% have de novo mutations and 5% have inherited mutations. Mutations of SCN9A, SCN2B, PCDH19 and GABRG2 genes are also seen in Dravet Syndrome.
Who does it effect?
It affects males and females equally. It is present in all nationalities, races and ethnic groups.
Can it be treated?
Dravet syndrome is a lifelong disorder. Anti-epilepsy medications and special diets can reduce the seizures. Speech therapy, physiotherapy and occupational therapy can alleviate some of the other symptoms.
Why did it happen?
Genetic disorders occur at the point of conception and nothing the mother or father did could have caused it or prevented it from happening.
What Are The Features?
- Seizures starting in infancy
- Multiple seizure types
- Developmental delays emerging in early childhood
- Motor and behavioural disorders increasing with age
What are the Comorbidities?
- Autonomic dysfunction
- Autistic traits
- Attention deficit and hyperactivity
- Ataxia (unsteadiness)
- Orthopedic conditions
- Sleep disturbances
Dravet Timeline
1978
Severe Myoclonic
Epilepsy of Infancy
first described by
Dr Charlotte Dravet
1982
42 cases of SMEI were presented at the XIIIth Epilepsy International Symposium
1987
SMEB Borderline forms described
1989
SMEI classified by ILAE
2000
Stiripentol tested for treatment of SMEI
2001
SCN1A mutations discovered in Belgian patients with SMEI and SMEI formally renamed as Dravet Syndrome
2006
Micro deletions in SCN1A discovered, accounting for 2-3% of Dravet cases and Mosaic SCN1A mutations identified in parents having more than one child with Dravet Sydrome
2008
Screening test identified for early diagnosis of Dravet Syndrome
2009
The SCN9a gene is identified as a possible modifier of SCN1a gene in Dravet Syndrome
2013
Mutations in other genes discovered in rare cases of Dravet Syndrome
We would like to thank Dravet Syndrome UK for sharing this poster with us. We especially wish to thank Rebecca Dandy and Kate Watts, both Dravet parents, who created the infographic and added Canadian prevalence data so we can use this educational tool in Canada. This infographic was reviewed by Dr. Charlotte Dravet.