Research News

Brian Theyel, MD, PhD – Brown UniversityAbnormal ectopic action potentials in PV-INs: A novel pathophysiological mechanism in Dravet syndromeResearch Grant – $250,000, 2 years Grant Summary: Dravet syndrome, which is caused by a mutation in the SCN1A gene, is a debilitating illness that emerges during the first year of life. It causes seizures, setbacks during development, speech and language

Mary Connolly, MB, BCh, FRCPC(C), FRCP(I), FRCP(Edin) – The University of British ColumbiaShubhayan Sanatani, MD, FRCPC – The Universty of British ColumbiaExtended monitoring for cardiac arrhythmias in Dravet syndromeClinical Research Grant – $250,000, 2 years Grant Summary: Dravet syndrome (DS) is a rare serious condition associated with early onset of seizures that typically do not

Cristina Reschke, PhD – RCSI University of Medicine and Health SciencesDS-TIME: a multi-assessment approach to uncover the underlying mechanisms of sleep disturbances in children with Dravet syndromeClinical Research Grant – $250,000, 2 years Grant Summary: Dravet syndrome (DS) is a very difficult to treat epilepsy syndrome characterized by seizures that start in the first years

Sophie Hill, PhD – Children’s Hospital of PhiladelphiaMechanistic investigation in a novel mouse model of early-onset SCN1A-related disordersPostdoctoral Fellowship – $75,000, 1 year Grant Summary: Mutations in the SCN1A gene most commonly cause reduced functioning of the Nav1.1 protein and lead to Dravet syndrome, a debilitating epilepsy disorder. However, a new class of SCN1A mutations

Meiling Zhao, PhD – University of MichiganEstablishing the role of the noradrenergic network during seizures in Dravet syndromePostdoctoral Fellowship – $75,000, 1 year Grant Summary: Individuals with Dravet syndrome suffer from severe seizures that cannot be completely controlled by medications. While most epilepsy research has focused on the more superficial brain regions that we know

Megan Abbott, MD – University of Colorado DenverIncreasing clinical trial readiness in Dravet syndrome- Creation and pilot of Dravet-specific clinical outcome measuresClinician-Researcher Award – $75,000, 1 year Grant Summary: Dravet syndrome (DS) is the most common genetic cause of Developmental and Epileptic Encephalopathy (DEE), yet there are no FDA approved disease modifying treatments. Current precision

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