Epileptic Encephalopathy with Continuous Spike-and-Wave During Sleep (EE-CSWS) is a rare pediatric epilepsy that impacts less than 20,000 children in the United States. Typical onset occurs between ages 2 and 4 years old and diagnosis is based on a unique electroencephalographic (EEG) pattern for electrical status epilepticus in sleep (ESES), together with cognitive stagnation and regression. There is currently no approved treatment for the disorder.
- Epilepsy Foundation (embed link: https://www.epilepsy.com/learn/types-epilepsy-syndromes/epileptic-encephalopathy-continuous-spike-and-wave-during-sleep-csws)
- Child Neurology Foundation (embed link: https://www.childneurologyfoundation.org/)
SCN8A with Developmental and Epileptic Encephalopathy (DEE) is a rare pediatric disorder that is thought to impact less than 1,500 children in the United States. Typical onset occurs around 4 months of age. SCN8A-DEE causes a range of symptoms including severe epilepsy, developmental delay, and other medical and treatment challenges including a high degree of refractoriness to currently available antiseizure medication. SCN8A-DEE is linked to gain of function mutations in the SCN8A gene, a gene that affects how electrical signals are conducted in the brain. Mutations in this gene can cause neurological problems including epilepsy, intellectual disabilities, movement disorders, and impaired development. There are currently no approved therapies for this form of pediatric epilepsy.
- Epilepsy Foundation (embed link: https://www.epilepsy.com/learn/epilepsy-due-specific-causes/genetic-causes-epilepsy/specific-genetic-epilepsies/scn8a-related-epilepsy)
- The Cute Syndrome Foundation (embed link: https://www.thecutesyndrome.com/)
- Wishes for Elliott (embed link: https://www.wishesforelliott.com/)
- SCN8A Epilepsy and Related Disorders (https://scn8a.net)
- Child Neurology Foundation (https://www.childneurologyfoundation.org/)