About SCN8A Epilepsy
SCN8A Epileptic Encephalopathy (SCN8A-EE), also known as EIEE13, is a rare, extremely severe, single-gene epilepsy caused by mutations in the SCN8A gene that result in a gain-of-function in the Nav1.6 sodium channel. SCN8A-EE typically presents with seizure onset between birth and 18 months of age. Most children diagnosed with SCN8A-EE have seizures that can occur multiple times a day and are often difficult to treat. Other symptoms include learning difficulties, muscle spasms, low or high muscle tone, poor coordination, developmental delay, and features similar to autism. The extent of physical disability leaves some children able to make little or no voluntary movement. Most children will have trouble learning to speak, and some will need assistance from feeding tubes to get the nourishment they need to grow. It is also believed that children and teenagers with SCN8A-EE are at risk for Sudden Unexpected Death in Epilepsy (SUDEP).