Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81408
Test Code 
4107
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA

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. We offer full gene sequencing of all coding exons and intron/exon boundaries of SPTAN1 by direct sequencing of amplification products in both the forward and reverse directions. SPTAN1 sequencing is also available as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel. Please see our information sheet for more details.