Research News

Ingo Helbig, MD – The Children’s Hospital of PhiladelphiaEthan M. Goldberg, MD, PhD – The Children’s Hospital of PhiladelphiaGenerating a shareable clinico-genomic data resource for Dravet syndrome 2023 Genetic RFA – $1,000,000, 3 years Grant Summary: Individuals with Dravet syndrome can have different disease courses, and there are important differences in how seizure and development differences […]

Lori L. Isom, PhD – University of MichiganScott Baraban, PhD – University of California San FranciscoJack M. Parent, MD – University of MichiganTherapeutic benefit of MGE progenitor cell translplantation in a rabbit model of Dravet syndromeTransformational Science Grant – $500,000, 3 years Grant Summary: Dravet syndrome (DS) is a devastating developmental and epileptic encephalopathy that

Andreas Brunklaus, MD – University of Glasgow, Royal Hospital for Children, Glasgow, UKSCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United KingdomGrant Support £30,000 ($41,481 USD) Grant Summary: The SCN1A Horizons natural history study launched in November 2023 and will assess up to 400 pediatric and adult patients with SCN1A-related epilepsies, including Dravet

Satya Sahoo, PhD – Case Western Reserve UniversityJeffrey Buchhalter, MD, PhD – University of Calgary School of MedicineDevelopment of an AI-powered Dravet Syndrome OntologySpecial Collaborative Research Project – 2 years, $240,000 Grant Summary: Dravet Syndrome (DS) is a childhood epilepsy associated with severe cognitive, behavioral and life-threatening consequences. Although a significant amount of experimental data in available

Gaia Colasante, PhD – Universita Vita-Salute San RaffaeleReactivating Scn1a gene in different interneuron subtypes to dissect their contribution to Dravet syndrome phenotypeResearch Grant – 2 years, $150,000 Grant Summary: Dravet syndrome (DS) is a devastating epileptic syndrome with associated relevant behavioral alterations. Heterozygous mutations in Scn1a gene account for the disease and its gene product, the sodium channel Nav1.1,

Mackenzie Howard, PhD – The University of Texas at AustinCerebellar deficits as mechanisms for motor, cognitive, and social dysfunction in Dravet syndromeResearch Grant – 2 years, $165,000 Grant Summary: In addition to frequent and severe seizures, most people with Dravet syndrome also suffer life-altering difficulties (“comorbidities”) with coordinated movement/muscle control, autism-associated behaviors, and learning and memory that

William Nobis, MD, PhD – Vanderbilt UniversityEffect of odorant on mortality and extended amygdala activation in Dravet syndromeResearch Grant – 2 years, $165,000**Co-funded with JAM for Dravet Grant Summary: Dravet syndrome (DS) is associated with a high epilepsy-related mortality, including an increased risk of sudden unexpected death in epilepsy (SUDEP). Controlling seizures can decrease the risk of SUDEP,