Featured Epilepsy Program: Dravet Collaborative Clinical Research-and Comprehensive Care Network (CCR-CCN)
The Northeast Regional Epilepsy Group in partnership with Dravet.org CCR-CCN offers comprehensive care to children and adults with Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy). Dravet Syndrome is a rare form of epilepsy associated with a genetic mutation (most commonly a SCNA1 mutation) which disrupts normal brain cell function resulting in seizures. Prolonged febrile seizures are frequently seen in the first year of life. Later in life, many different types of seizures may occur. Cognitive disorders, behavioral disorders including autism-spectrum disorders, and other medical disorders can be associated with Dravet Syndrome.
Although most individuals with Dravet Syndrome share the same genetic mutation, it is not clear why some patients are more affected than others. Seizure control can be hard to achieve. Several commonly used anti-seizure medications can worsen seizures associated with Dravet Syndrome and must be avoided. Many of the medications used to treat the disorder are rarely used, even by epileptologists, and require special care when prescribing. For example, stiripentol has been shown to be highly effective, but is difficult to use because of interactions with many other seizure medications. Dietary therapies such as the Ketogenic Diet are also important therapeutic options.
The NEREG/Dravet.org CCR-CCN program is comprised of a team of medical and allied professional who are able to provide a full spectrum of diagnostic and therapeutic services. Evan Fertig, MD, who directs the program, has had 9 years providing care to children and adults with the disorder. Geneticists affiliated with the program are able to provide genetic testing and genetic counseling. Neuropsychologists are available assess development, test for associated developmental and behavioral disorders, and provide guidance for treatment. A nutritionist is available to provide expert guidance of dietary treatments. Neurosurgeons are available to provide Vagal Nerve Stimulation (VNS) which is another alternative treatment option when medications are not successful. Partnership with other Dravet.org CR-CCN provides an opportunity for patients to participate in clinical research aiming to develop a better understanding of the disorder and develop new treatments.
For the most updated information on Dravet's syndrome, support, and resources, visit http://www.dravetfoundation.org/ and www.dravet.org. Both foundations are working steadily to raise finds and awareness on Dravet's.
