Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81407
Test Code 
4108
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

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.