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 […]
Category: Dravet Syndrome Dravet Syndrome
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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
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.
When to Suspect an SCN1A Mutation Related Epilepsy
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 […]
Case Study: Dravet Syndrome 20 yr. old patient
Dravet syndrome Case Study: 20 year old patient give Stiripentol, on alternative medications. This is a case study reflecting a Dravet syndrome consult by H Davies, PharmD to a pediatric neurologist in the US. Name of child is changed. This factual case is for learning purposes only. Any changes to medication should be under the supervision […]
My Child Has Dravet – Now What?
My Child Has Dravet syndrome – What Next? Find a child neurologist that has experience in Dravet syndrome. Check out the Dravet syndrome article page with links to articles. The physicians listed are experienced in treating Dravet syndrome. To locate an epilepsy center in the US registered with the National Association of Epilepsy Centers, go […]
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 […]
Dravet syndrome Case Study
Dravet syndrome Pharmacotherapy Consultation S: Per mother: “My child currently weight 42 lbs, we tried the keto diet in winter – spring ’06 with no change in seizure control. The seizures he has been having recently are a combination of eye fluttering, chin tucking in to chest, drooling, with occasional myoclonics. He displays this activity for […]