About Early Infantile Epileptic Encephalopathy (EIEE13)
Mutations in the SCN8A gene result in a gain-of-function in the NaV1.6 sodium channel that can cause a rare, extremely severe, single-gene epilepsy disorder known as EIEE13, which typically presents with seizure onset between birth and 18 months of age. Most children diagnosed with EIEE13 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.