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 […]
Category: Dravet Syndrome - Part 2
When to Suspect an SCN1A Mutation Related Epilepsy
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 […]
Dravet syndrome as Presented to NORD
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
Stop the Status
Improving Outcomes in Pediatric Epilepsy Syndromes Stop the Status Improving OUtcomes in Pediatric Epilepsy Syndromes Overview – Seizures and Epilepsy Syndromes – Seizure Emergencies – Febrile Seizures
Vision 20/20 Task Force
ICE Epilepsy Alliance is a member of the American Epilepsy Society’s Vision 20/20 Task Force, a group of advocacy groups committed to improve the lives of patients with epilepsy. At the request of the Department of Health and Human Services Office of the Assistant Secretary for Planning and Evaluation, the National Institutes of Health, and […]
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 […]
Understanding Dravet Syndrome
The Dravet syndrome Spectrum Introduction Sodium channel related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and genetic epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome (Ds) at the severe end. There are currently 359 SCN1A disease-causing mutations reported in the literature. Recent discovery of the […]