Participate in a Dravet syndrome Genetic Study

Participate in a Dravet syndrome Genetic Study

The Genetic Investigation of Child Neurological Disorders Joseph Gleeson, M.D. And his team at UCSD seek to identify new causes of Dravet syndrome Who Can Help? Families with: prefer at least 2 members with epilepsy and at least one with Dravet syndrome (Also accepting Dravet participants without a family history of seizures) Dravet syndrome as a primary diagnosis and no SCN1A mutations found Epilepsy or Dravet syndrome must not be due to trauma, tumors, CNS infection, stroke, pregnancy or birth complications or othe environmental...

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Hope In Action

Hope In Action

Novel Compound Designed to Increase Protein Expression in SCN1A loss of function Mutations •More than 700 mutations of the Scn1a gene have been identified making this the most commonly mutated gene in human epilepsy. •More than 50% of these mutations result in a truncated protein clearly demonstrating haploinsufficiency of SCN1A as a cause of Dravet Syndrome. This means the mutation leads to a loss of function due to a premature stop codon (frameshift, nonsense, splice site, deletion, microdeletion)

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Tomorrow Isn’t Soon Enough

Tomorrow Isn’t Soon Enough

This page hosts a link to download a power point file that uses illustrations, graphs, and charts to convey a collection of gathered information on Dravet syndrome from the science end of the causes, to the information that is available on current cases of the disease, prognosis and even some drug information.

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Dravet syndrome International Patient Registry

Dravet syndrome International Patient Registry

The genetic basis of pediatric epilepsy syndromes is receiving increasing attention as known seizure propagating gene mutations are identified and genetic testing is commercially available. Dravet syndrome, or severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy caused by a mutation in the SCN1A gene in 80% of children affected.

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Dravet Syndrome Patient Registries & Why We Need Them

Dravet Syndrome Patient Registries & Why We Need Them

An international Dravet syndrome registry will aid in the understanding of this rare epileptic encephalopathy. USF has many years experience in registry development, the design and development of collaborative research involving genotype-phenotype analyses, and serves as the Data and Technology Coordinating Center for the NIT-funded Rare Diseases Clinical Research Network, which includes the Consortium for the Clinical Investigations of Neurological Channelopathies, which exists to bring together physicians and patients for the sake of neurological channelopathies.

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International Ion Channel Registry

International Ion Channel Registry

What is the purpose of this registry? The International Ion Channel Epilepsy Patient  Registry is a collaborative effort by the University of Michigan Department of Neurology and the Brain Institute at Miami Children’s Hospital to collect information from patients with ion channel epilepsies, beginning with Dravet syndrome  (SMEI)* and related ion channel epilepsies (such as GEFS+, ICE-GTC, EMRF, or SMEB)*.  The aim of the Registry is to collect data on as many patients as possible that will be analyzed by researchers and doctors around...

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Case Study SUDEP with Dravet

Case Study SUDEP with Dravet

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation *Franc¸ois Le Gal, yChristian M. Korff, *Christine Monso-Hinard, zMichael T. Mund, *Michael Morris, *xAlain Malafosse, and {Thomas Schmitt-Mechelke *Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland; yPediatric Neurology, Pediatric Specialties Service, Child and Adolescent Department, University Hospitals of Geneva, Geneva, Switzerland; zInstitute of Legal Medicine, University of Zurich, Zurich, Switzerland; xDepartment of Psychiatry, University of...

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The Sodium Channel and Morbidities Associated with Dravet Syndrome

The Sodium Channel and Morbidities Associated with Dravet Syndrome

The Sodium Channel and Morbidities Associated with Dravet Syndrome (SMEI) A focus of the works of Dr. Bill Catterall, Chair of Pharmacology, University of Washington School of Medicine Written by : Michelle Welborn, PharmD William Catterall, Ph.D.Professor and Chair of Pharmacology Research Affiliate, Center on Human Development and Disability wcatt@uw.edu 206-543-1925, 206-543-1970 University of Washington Box 357280 Seattle, WA 98195-7920   Dr. Catterall is interested in electrical signaling in the brain and peripheral nervous system,...

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