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AES 2021 Recap, purple brain

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, PhD University of Michigan

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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Simona Balestrini, MD, PhD – UCL Queen Square Institute of Neurology Sanjay Sisodiya, PhD, FRCP – UCL Queen Square Institute of Neurology

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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Liu Lin Thio, MD, PhD – Washington University in St. Louis Joel R. Garbow, PhD – Washington University in St. Louis

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, PhD Ohio State College of Medicine

Targeting Molecular Responses to Seizures in Dravet Syndrome

Jacy Wagnon, PhD – The Ohio State University 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

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Manisha N. Patel, PhD – University of Colorado and Kelly G. Knupp, MD – Children’s Hospital Colorado

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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Monarch Dravet syndrome study

MONARCH Trial Update

Phase 1/2a MONARCH clinical trial of STK-001 update Stoke Therapeutics released interim safety, pharmacokinetic, and CSF exposure data from their Phase 1/2a MONARCH trial of STK-001 in individuals with Dravet syndrome. • The data in this analysis comes from 21 patients in the Single Ascending Dose arm of the study (SAD: 1 dose with a

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PAME 21

PAME Memory Wall

Partners Against Mortality in Epilepsy Memory Wall Partners Against Mortality in Epilepsy (PAME) is a collaboration among health care providers, clinical researchers, basic scientists, public health officials, patient advocates, caregivers, bereaved families, and people living with epilepsy. This range of stakeholders come together with a common goal of improving our understanding of and working to

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Surgery Procedures & Dravet Syndrome, Surgery & Doctor graphic

Surgery & Procedures

Surgery & Procedures in Dravet Syndrome Patients with Dravet syndrome often require a surgery or other invasive procedure at some point in their life. While there are no specific surgical procedures that are specifically required due to the diagnosis of Dravet syndrome, there are some procedures that occur more commonly, including: feeding tube placement (i.e.,

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