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Veronica Hood, PhDResearch Coordinator
www.dravetfoundation.org
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What is Dravet syndrome?
• Severe, often intractable form of epilepsy• Seizure onset 1-18 months, often febrile • Various seizure types• Generally normal cognitive/motor development before seizure onset• Variable behavioral and developmental delays emerge with age• Movement, balance, and orthopedic comorbidities• Associations with autonomic, metabolic, and immune dysfunction• 15-20% mortality rate due to SUDEP, SE, seizure-related accidents, and infections
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What causes Dravet syndrome?• SCN1A mutation (80%)• Encodes the Nav1.1 sodium channel• Haploinsufficiency• Primarily expressed by inhibitory interneurons• SCN1A spectrum of disorders
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Genetic Testing for Dravet Syndrome
• Testing is often delayed• Many of the diagnostic criteria are not apparent in the first year of life • Infants with Dravet syndrome initially experience typical development
• Diagnosis informs treatment
Genetic testing via an epilepsy panel should be considered in patients exhibiting any of the following:
• 2 or more prolonged seizures by 1 year of age• 1 prolonged seizure and any hemiclonic seizure by 1 year of age• 2 seizures of any length that seem to affect alternating sides of the body• History of seizures prior to 18 months of age and later emergence of myoclonic and/or absence
seizures
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How prevalent is Dravet syndrome?• Incidence estimated at 1:15,700
• ~17,850 patients in the US
• 1,321 patients registered in US Family Network • ~18% are adult patients
• Still missing many patients.• Adult patients?• Misdiagnosis
• Non-coding mutations
Wu, E., et. al. (2015). Incidence of Dravet Syndrome in a US Population. Pediatrics 136(5): 1310-e1315. doi: 10.1542/peds.2015-1807.Carville G, et. al. (2018) Aberrant inclusion of a poison exon causes Dravet syndrome and related SCN1A-associated genetic epilepsies. Amer J of Human Gen 103:1022-1029. doi: 10.1016/j.ajhg.2018.10.023
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DSF Mission Statement
“The mission of Dravet Syndrome Foundation (DSF) is to
aggressively raise funds for Dravet syndrome and related
epilepsies; to support and fund research; increase awareness;
and to provide support to affected individuals and families”
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DSF Programs• Professional Programs
• Research Grants (4 mechanisms, $75-150K)• Research Roundtable• Biennial conference
• Advocacy and Support Programs• Parent Support Groups• DSF Family Network• Day of Dravet Workshops• Patient Assistance Grants• Initiatives to provide additional support to families
• Fundraising
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Progress in Dravet-Related Research• Dravet syndrome described in 1978
• First associations with SCN1A in early 2000s• Research still lagged
• DSF founded in 2009• Began funding pilot grants in 2010• Over $4.6M directed to research since• NIH funding has also increased greatly
DSF FoundedSCN1A assoc
w/ Dravet
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Progress in Dravet-Related Research• 4 Grant mechanisms
• Basic Research ($150K/2yr)• Post-doctoral Fellowships ($50K/ 1yr)• Clinical Research ($150K/2yr)• Clinician Researcher ($75K/1yr)• Special RFAs
• Recent Progress in Research• Multiple mouse models• Zebrafish à clinical trials• Incidence nearly twice as common as previous estimate• Treatment Consensus• Disease modifying treatments
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DSF Provides Education• Social Media• Information Rich Website• Decoding Dravet Blog• Research Review• Monthly Newsletter• Biennial Conference• Day of Dravet• Educational Webinar Series• Professional Partnerships
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What’s still missing?
• A cure • Attention to other comorbidities• An understanding of SUDEP• Support for adult patients and families• Increased testing
• Invitae “Behind the Seizure”