Dravet syndrome International Patient Registry

Solving the Puzzle of Intractable Childhood Epilepsy Syndromes

Harriet Davies, PharmD

Intractable Childhood Epilepsy Alliance

Durango, CO 81301


The genetic basis of pediatric epilepsy syndromes is receiving increasing attention as known seizure propagating gene mutations are identified and genetic testing is commercially available.   Dravet syndrome, or severe myoclonic epilepsy of infancy (SMEI),  is an epileptic encephalopathy caused by a mutation in the SCN1A gene in  80% of children affected. The Dravet Syndrome Registry is a longitudinal and prospective, observational and non-interventional study that will help solve the puzzle of  this rare syndrome by  narrowing the gap between cell based knowledge and clinical disease.


Online questionaire developed through Vista Vanguard Software

Participants identified through web based support group

Questionaire launched for beta testing – parents concented



Literature Cited:

Dravet c, Bureau M, et al.  Severe myoclonic  epilepsy of infancy: In Roger J, et al: Epileptic Syndromes in Infancy, Childhood and Adolescence, 3ed. John Libbey, Eastligh, pp81-103.

DeLisa Fairweather, Department of Pathology, Johns Hopkins University, Baltimore, MD 21205, USA; fax: 410-614-3548; email: [email protected]

National Institute of Health.  Numbers Count: Mental Disease in America. www.nimh.nih.gov/publicat/numbers/cfm

Registries for Evaluation of Patient Outcomes:  A User’s Guide.  AHRQ http://effective healthcare.ahrq.gov/


Beta testing of this simple registry revealed interesting trends in the family history of this epileptic encephalopathy including  co- morbid conditions, average age of diagnosis of Dravet syndrome, drugs that improve or worsen the condition, variation of  “acceptable” seizure control, and parent understanding of medical questions.

This database will be organized into a validated commercially available software system  after refinements and will be expanded to include all intractable childhood epilepsy syndromes.  A physician registry will be  launched with SCN1A referral centers as they are identified and developed.

See also  Dravet syndrome Case Study