Early infantile epileptic encephalopathy (EIEE) 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. Patients have severe developmental delay and poor prognosis. EIEE3 is caused by mutations in SLC25A22 (solute carrier family 25, member 22; OMIM#609302), located at 11p15.5. Homozygous mutations in SLC25A22 have been described in case reports of consanguineous families with EIEE. We offer full gene sequencing for all 9 coding exons and the intron/exon boundaries of SLC25A22 by direct sequencing of amplification products in both the forward and reverse directions. SLC25A22 sequencing is also offered as part of an Early Infantile Epileptic Encephalopathy Panel, please see our information sheet for more details.
Specimen Types Accepted