Defining Dravet Syndrome
What is Dravet Syndrome?
Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. Dravet syndrome is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment, in addition to seizure activity, that stem from the genetic mutation that causes the disease.
Cause and Diagnosis
What causes Dravet Syndrome?
Approximately 85% of those diagnosed with Dravet syndrome have a mutation of the SCN1A gene.1 Dravet syndrome is not usually caused by an inherited mutation. In 90% of these patients, the mutation is not found in the patient’s parents.1
How is Dravet Syndrome diagnosed?
If a patient exhibits specific symptoms, genetic testing may be done via an epilepsy panel, to look for SCN1A and other genes commonly associated with epilepsy.
When was Dravet syndrome identified?
Dravet syndrome was first identified by French psychiatrist and epileptologist, Charlotte Dravet in 1978.
What are the symptoms and effects of Dravet Syndrome?
Dravet syndrome is characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. However, the effects of Dravet syndrome are not limited to seizures.1 More than 90% of patients suffer from at least one non-seizure comorbidity, including:
- Intellectual disability
- Developmental delays
- Movement and balance issues
- Language and speech disturbances
- Growth defects
- Sleep abnormalities
- Disruptions of the autonomic nervous system
- Mood disorders
What are the long-term effects of Dravet Syndrome?
Dravet syndrome has a high rate of premature death due to the severity of this type of epilepsy. Up to 20% of children and adolescents living with Dravet die before adulthood, due to: 3,4,5
– Sudden Unexplained Death in Epilepsy (SUDEP)
– Prolonged seizures
– Seizure-related accidents
Can children outgrow Dravet Syndrome?
Children with Dravet syndrome do not outgrow their condition and the care required can severely impact quality of life for the individual and their family.1
- “What Is Dravet Syndrome?” Dravet Syndrome Foundation. Retrieved Aug 12, 2019, from www.dravetfoundation.org/what-is-dravetsyndrome/.
- Escayg A, Goldin A. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia. 2010 Sep; 51(9): 1650–1658.
- Shmuely S, Sisodiya SM, Gunning WB, Sander JW, Thijs RD. Mortality in Dravet syndrome: A review. Epilepsy Behav. 2016 Nov; 64(Pt A):69-74.
- Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE. Mortality in Dravet syndrome. Epilepsy Res. 2016 Dec;128:43-47.
- “Dravet syndrome” NORD National Organization for Rare Disorders. Retrieved Aug 20, 2019, from https://rarediseases.org/rare-diseases/ dravet-syndrome-spectrum/
Dravet Syndrome: A Severe, Progressive Genetic Epilepsy
1 Sudden Unexpected Death in Epilepsy
Sources: 2018 Health Advances Report; Djémié et al., Molecular Genetics & Genomic Medicine, 2016; Lagae et al., Developmental Medicine & Child Neurology, 2017; Nabbout et al.,
Orphanet Journal of Rare Diseases, 2013