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Research News

Research News

Dravet Syndrome International Consensus Project

Elaine C. Wirrell, MD – Mayo ClinicDSF Research Award – $75,000 (1 year project)Dravet Syndrome International Consensus Project (funding provide through unrestricted grants from Biocodex, Greenwich Biosciences, and Zogenix) A core group of pediatric and adult epilepsy specialists, with input from DSF, has identified important clinical issues relating to the diagnosis and management of patients with …

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Join the EL-PFDD Meeting

Particpate in the EL-PFDD on Dravet Syndrome Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting on Dravet Syndrome EL-PFDD meetings bring together patients and caregivers, US Food and Drug Administration (FDA) representatives, pharmaceutical companies, and doctors who are experts in the particular disease. DSF will be hosting a virtual EL-PFDD on Dravet syndrome on February 3, …

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AES Meeting Summary

AES 2021 Meeting Summary On December 3-7th, 2021, the American Epilepsy Society (AES) held its annual conference to bring together clinicians and scientists on the cutting edge of epilepsy research. This year had a multitude of presentations related to Dravet syndrome, making for an exciting few days focused on what we have learned about Dravet …

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Wenxi Yu

Optimizing the Regional Administration of SCN8a-targeting RNAi Therapy

Wenxi Yu, PhD – University of Michigan $50,000 ONE YEAR POSTDOCTORAL FELLOWSHIP Co-funded with JAM for Dravet Mutations in the sodium channel genes SCN1A and SCN8A are a significant cause of Developmental Epileptic Encephalopathies (DEEs), severe seizure disorders. We demonstrated that reduced expression of Scn8a using a specific ASO can prevent the onset of seizures …

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Use of TMS to understand in-vivo the functional pathophysiology of Dravet syndrome and predict treatment response

Simona Balestrini, MD, PhD – UCL Queen Square Institute of Neurology Sanjay Sisodiya, PhD, FRCP – UCL Queen Square Institute of Neurology  $150,000 TWO YEAR CLINICAL RESEARCH AWARD Dravet syndrome (DS) is caused by a genetic change that leads to severe epilepsy with difficult-to-treat seizures, cognitive impairment, other neurological and physical symptoms, and heightened risk …

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Ketogenic Diet Modulated Brain Energy Metabolism in Dravet Syndrome

Liu Lin Thio, MD, PhD – Washington University in St. Louis Joel R. Garbow, PhD – Washington University in St. Louis $150,000 TWO YEAR RESEARCH AWARD Co-funded with JAM for Dravet Children with Dravet syndrome have drug-resistant epilepsy characterized by different seizure types along with developmental regression and intellectual impairment. Dravet syndrome is genetic with …

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Jacy Wagnon

Targeting Molecular Responses to Seizures in Dravet Syndrome

Jacy Wagnon, PhD – Ohio State College of Medicine $150,000 TWO YEAR RESEARCH AWARD Many individuals with Dravet syndrome (DS) do not achieve adequate seizure control using available drug treatments. These drugs also do not sufficiently treat other symptoms of DS, including behavioral and cognitive impairments. We analyzed gene expression in a mouse model of …

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Lymphoblast cell lines as a model to uncover metabolic defects in Dravet syndrome

Manisha N. Patel, PhD – University of ColoradoKelly G. Knupp, MD – Children’s Hospital Colorado $150,000 TWO YEAR RESEARCH AWARD Dravet syndrome (DS) is a catastrophic developmental and epileptic encephalopathy characterized by intractable early-life seizures, and debilitating comorbidities such as cognitive deficits, developmental delay, sleep disturbances, progressive movement abnormalities and increased risk of sudden unexpected …

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