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Understanding Dravet Syndrome

Dravet syndrome is a rare, severe, lifelong form of epilepsy that typically begins in the first year of life in infants that are developing as expected.1 Previously known as severe myoclonic epilepsy in infancy, Dravet syndrome impacts over 5,400 people under the age of 20 in the United States.1,2

Dravet syndrome is a spectrum disorder which presents as a wide range of seizure types with varying levels of severity. Most people with Dravet syndrome go on to develop some level of developmental disability and have other conditions that are associated with the syndrome, including movement and balance issues, orthopedic conditions, delayed language and speech issues, growth and nutrition issues, sleeping difficulties, sensory integration disorders and disruptions of the autonomic nervous system.3

The most common cause of Dravet syndrome is the result of a mutation of the SCN1A gene, which codes the production of sodium ion channels – a part of the cell membrane involved in nervous system function – that allows sodium ions in and out of the cell.3 Approximately 80% of those diagnosed with Dravet syndrome have mutations of the SCN1A, however, it is important to note that having the mutation is not enough to make a diagnosis, and the absence of the mutation does not exclude a diagnosis of Dravet syndrome.3

Sometimes, those diagnosed with Dravet syndrome may experience a prolonged seizure event, known as status epilepticus, which is defined as any seizure greater than five minutes or having more than one seizure within a five-minute period.3,4 Status epilepticus seizures often require medical intervention to stop the seizure because, generally, the longer a seizure lasts, the less likely it is to stop on its own.4 These prolonged seizures are dangerous and may lead to permanent brain damage or even death as a result of direct damage to the brain caused by the injury that causes the seizures, stress on the system from repeated generalized tonic-clonic seizures, or injury from repeated electrical discharge in the brain.4 Dravet syndrome is also associated with high rates of SUDEP (sudden unexpected death in epilepsy) which attributes 15-61% of premature mortality.5,6

“When Grace was 10 months old, she was having more than 400 seizures a day, and in a 1-month period, she had to be intubated at least eight times,” said Gloria, mother and caregiver to Grace who is living with Dravet syndrome. “She would hit her head on furniture at home, so we had to get her fitted with a helmet for protection. We cleared the whole living room of furniture and put pillows all over the floor.”

Unfortunately, there is currently no cure for Dravet syndrome, and treatment is focused on obtaining the best seizure control with the fewest side effects.7 It is recommended that people living with Dravet syndrome avoid seizure triggers, which may include immediate changes to surroundings or body temperature, illness, stress, or flashing lights.3

“I learned about things that could cause Grace’s seizures. Simple things like giving her a bath, giving her a new toy, and the temperature outside are all things that can make an entire difference in our day,” Gloria further shared on Grace’s journey of living with Dravet syndrome.

Here at Jazz, we believe all people, particularly those with difficult, complex conditions, deserve to live their lives as fully as possible. We are committed to leveraging our expertise in neuroscience to develop innovative therapeutic options that address the needs of those living with epilepsy, including Dravet syndrome. Additionally, as part of our commitment to patients with unmet needs, we are listening to patients, their care teams, and leading industry experts, so we can more comprehensively support those who need it and create new or better standards of care. We do this knowing that, with every decision we make, we can transform the lives of patients and their families, like Grace and Gloria, and create a lasting impact.

 

References:

  1. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52 Suppl 2:3-9.
  2. Dravet C, Bureau M, Oguni H, Cokar O, Guerrini R. Dravet syndrome (severe myoclonic epilepsy in infancy). In: Bureau M, Genton P, Dravet C, et al., eds. Epileptic Syndromes in Infancy, Childhood and Adolescence. Montrouge, France: John Libbey Eurotext Ltd.; 2012:112-156.
  3. Dravet Syndrome Foundation. What is Dravet Syndrome? Available at https://www.dravetfoundation.org/what-is-dravet-syndrome/. Accessed May 24, 2022.
  4. Epilepsy Foundation. What is Status Epilepticus? Available at http://www.epilepsy.com/learn/impact/seizure-emergencies/status-epilepticus. Accessed May 24, 2022.
  5. Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel. Pediatric neurology. 2017;68:18-34 e13.
  6. Cooper MS, Mcintosh A, Crompton DE, et al. Mortality in Dravet syndrome. Epilepsy Res. 2016;128:43-47.
  7. Wirrell EC. Treatment of Dravet syndrome. Can J Neurol Sci. 2016;43 Suppl 3:S13-18.