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 […]
Category: Dravet Syndrome
Hope In Action
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 […]
Wrong Diagnosis
Focal Epilepsy, Generalized Epilepsy, Lennox-Gastaut Diagnosis, Atypical Febrile Seizures and Epilepsy of Unknown Cause Beginning in Children < 1 year old: When to Suspect an SCN1A mutation related epilepsy A clinical study published in Brain 2007 (Harkin et al) reported from a multi-national study of 188 patients with epileptic encephalopathies (epilepsy with brain dysfunction) that […]
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 […]
Can Transplanted Neuronal Progenitor Cells Develop into Functioning Neurons
Released: 12/1/2010 3:45 PM EST Embargo expired: 12/7/2010 9:00 AM EST Source: American Epilepsy Society (AES) Newswise — Epilepsy research is reaching beyond improving the means for quelling symptoms to the exploration of potential modalities for correcting or reversing alterations in neural function that underlay some forms of the disorder. In research reported at the 64th American Epilepsy […]
About Dravet Syndrome
Dravet syndrome Harriet Davies, PharmD written for: National Organization for Rare Diseases March 2009 Synonyms of Dravet syndrome Severe Myoclonic Epilepsy in Infancy (SMEI) Polymorphic Epilepsy in Infancy (PMEI) Epilepsy with polymorphic seizures
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 […]
Child Neurology: Dravet Syndrome
Child Neurology:Dravet syndrome When to suspect the diagnosis Hollie Robinson, MD Alex Goodwin, MD, PhD Tom Davis, MD George Walton, Jr., MD ABSTRACT Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. The seizures often occur with […]
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 […]
Ion Channel Epilepsies
The above link will automatically download A PDF file of a 36 page power point presentation created by Sofia Walton, Pharm D. Candidate, Wingate University reviewing Ion Channel Epilepsies into a new browser window or tab.