Dravet Syndrome
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Learn About Dravet Syndrome

What is the definition of Dravet Syndrome?
Dravet syndrome is the most severe of a group of conditions known as SCN1A-related seizure disorders. Symptoms include seizures which first occur in infancy that are often triggered by high temperatures (febrile seizures). In childhood, many types of seizures may occur and they may increase in frequency. Seizures may be difficult to treat. Other symptoms include loss of motor skills, intellectual disability, speech impairment, and difficulty with movement. Most cases of Dravet syndrome occur when the SCN1A gene is not working correctly. It can be inherited in an autosomal dominant pattern, but most people with Dravet syndrome do not have a family history of the condition. Diagnosis is based on a clinical exam, medical history, and the results of genetic testing.
What are the alternative names for Dravet Syndrome?
  • Dravet syndrome
  • Myoclonic epilepsy, severe, of infancy
  • SME
  • SMEI
  • Severe Myoclonic Epilepsy of Infancy
Who are the top Dravet Syndrome Local Doctors?
Elite in Dravet Syndrome
Elite in Dravet Syndrome
Referral may be required

U Of M Neurology Clinic

1500 E Medical Center Dr, 
Ann Arbor, MI 
Languages Spoken:
English

Jack M. Parent, M.D., is a professor of neurology, director of the Neurodevelopment and Regeneration Laboratory, and co-director of the Comprehensive Epilepsy Center in the University of Michigan Medical School.His current research interests include neural stem cell transplantation to treat brain injury and neurodegeneration, and the modification of adult neural stem cells to promote brain repair after stroke or prevent epilepsy.Dr. Parent earned a Bachelor of Arts degree, with distinction, in human biology from Stanford University and his medical degree from the Yale University School of Medicine. He completed a medical internship and neurology residency at the University of California, San Francisco (UCSF), where he was selected chief resident. He stayed at UCSF for clinical fellowship training in epilepsy and clinical neurophysiology, and postdoctoral training in neuroscience research.An internationally recognized research leader in the fields of neural stem cell biology, regeneration after brain injury and epilepsy, Dr. Parent established the Neurodevelopment and Regeneration Laboratory at the U-M in 2000.Dr. Parent is a member of the Epilepsy Foundation of America Research Council, the Medical Advisory Board of the Global Ischemia Foundation, the Independent Science Review Panel of the New Jersey Commission on Brain Injury Research, and the National Scientific Advisory Council of the American Federation for Aging Research. He also serves as an associate editor of Neuroscience Letters, and is on the editorial boards of Experimental Neurology and Epilepsy Currents.He has received several awards for his research, including a Junior Investigator Award from the American Epilepsy Society, a Paul Beeson Physician Faculty Scholars in Aging Award, a Dreifuss-Penry Epilepsy Award from the American Academy of Neurology, and a Grass Foundation Award in Neuroscience from the American Neurological Association. Dr. Parent is rated as an Elite provider by MediFind in the treatment of Dravet Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Myoclonic Epilepsy, Epilepsy, Epilepsy with Myoclonic-Atonic Seizures, and Dravet Syndrome. Dr. Parent is board certified in Neurology and Clinical Neurophysiology.

Distinguished in Dravet Syndrome
Distinguished in Dravet Syndrome
Referral required

Atrium Health Neurology Specialty Care

1225 Harding Place, Suite 4200, 
Charlotte, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Rajdeep Singh is a Neurologist practicing medicine in Charlotte, North Carolina. Dr. Singh is rated as a Distinguished provider by MediFind in the treatment of Dravet Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Seizures, Memory Loss, Dravet Syndrome, and Epilepsy. Dr. Singh is board certified in American Board Of Psychiatry And Neurology. Dr. Singh is currently accepting new patients.

 
 
 
 
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Elite in Dravet Syndrome
Elite in Dravet Syndrome
Referral may be required

Children's Hospital Colorado

13123 East 16th Avenue, Department Of, 
Aurora, CO 
Experience:
29+ years
Languages Spoken:
English
Accepting New Patients

Kelly Knupp is a Pediatrics provider practicing medicine in Aurora, Colorado. She has been practicing medicine for over 29 years. Dr. Knupp is rated as an Elite provider by MediFind in the treatment of Dravet Syndrome. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses West Syndrome, Myoclonic Epilepsy, Spasmus Nutans, and Dravet Syndrome. Dr. Knupp is board certified in American Board Of Psychiatry And Neurology and American Board Of Psychiatry And Neurology. Dr. Knupp is currently accepting new patients.

What are the latest Dravet Syndrome Clinical Trials?
A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Investigate the Efficacy, Safety, and Tolerability of LP352 in the Treatment of Seizures in Children and Adults With Dravet Syndrome

Summary: This (DEEp SEA Study) is a double-blind, randomized, placebo-controlled, multicenter study to investigate the efficacy, safety, and tolerability of LP352 in the treatment of seizures in children and adults with DS. The study consists of 3 main phases: Screening, Titration period, and Maintenance period, followed by a Taper period and Follow-Up. Participants will be randomized to LP352 or placebo. ...

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ENDEAVOR: A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Infants and Children With SCN1A-Positive Dravet Syndrome

Summary: ENDEAVOR is a Phase 1/2, 2-part, multicenter study to evaluate the safety and efficacy of ETX101 in participants with SCN1A-positive Dravet syndrome aged ≥6 to \<36 months (Part 1A), aged ≥48 months to \<18 years (Part 1B), and aged ≥6 to \<48 months (Part 2). Part 1A follows an open-label, dose-escalation design, Part 1B follows an open-label design, and Part 2 is a randomized, double-blind, sham...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center