About Dravet Syndrome

About Dravet Syndrome

Dravet syndrome Michelle Welborn, 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 Disorder Subdivisions Febrile Seizures Genetic Epilepsy with Febrile Seizures Plus (GEFS+) – formerly Generalized Epilepsy with Febrile Seizures Plus Severe Myoclonic Epilepsy Borderline (SMEB) Intractable Childhood Epilepsy with Generalized Tonic Clonic Seizures (ICE-GTC) General...

read more

Dravet syndrome Case Study

Dravet syndrome Case Study

Dravet syndrome Pharmacotherapy Consultation 12/19/08 Michelle Welborn, PharmD Name: xxxxxxx Weight:  42 lbs (19 kg) 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 10-15 sec and will continue about his routine, however, they are occurring every 3-5 minutes. Swiping...

read more

Stiripentol Use in Children with Ds

Stiripentol Use in Children with Ds

Stiripentol Use in Children with Dravet Syndrome Data Source: Dravet Syndrome Patient Registry July 2008 Number of completed surveys: 22 Number of children using stiripentol: 8 Michelle Welborn, PharmD September 2008 This research was generated by the preliminary Dravet syndrome patient registry launched in 2008 and was submitted to be used for application of Orphan Drug Designation for stiripentol in the United States. Stiripentol was granted Orphan Drug Designation in November 2008. Current age of child: Race: How long has your child been...

read more

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...

read more

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...

read more