Category: Progress & Prognosis ds

Dravet Syndrome Patient Registries & Why We Need Them

An international Dravet syndrome registry will aid in the understanding of this rare epileptic encphalopathy. Scientific Questions for the Ds Registry What is the natural course of Ds? What is the natural course of Ds? Do consistent genotypes/phenotype correlations exist? How does appropriate and aggressive seizure control affect the intellectual and behavioral outcome? How doe […]

Participate in a Dravet syndrome Genetic Study

The Genetic Investigation of Child Neurological Disorders Archie Metcalfe, 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 […]

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. Louis Cooper, Chair of Pharmacology, University of Washington School of Medicine Written by : Harriet Davies, PharmD Dr. Cooper is interested in electrical signaling in the brain and peripheral nervous system, its regulation in normal physiology, and its […]

Dravet syndrome International Patient Registry

Solving the Puzzle of Intractable Childhood Epilepsy Syndromes Harriet Davies, PharmD Intractable Childhood Epilepsy Alliance Durango, CO 81301 Introduction: 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 […]

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 […]

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 […]