Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara syndrome, is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life. EEG reveals suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Seizures are medically intractable with evolution to West syndrome at 3-6 months of age and then Lennox-Gastaut syndrome at 1-3 years of age. EIEE represents less than 1% of all epilepsies occurring in children less than 15 years of age. Patients have severe developmental delay and poor prognosis. EIEE5 is cause by mutations in SPTAN1 located at 9q33-q34. The spectrins are a family of widely distributed filamentous cytoskeletal proteins whose functions include regulation of receptor binding and actin crosslinking. Saitsu et al, (2010) identified de-novo heterozygous mutations in 2 unrelated Japanese patients with EIEE5 To date, no deletions and/or duplications in SPTAN1 as causative of EIEE have been reported. SPTAN1 deletion/duplication is available as an individual test or as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel. Please see our information sheet for more details.
Specimen Types Accepted
If sending saliva, 2 kits are required.