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 approximately 1% of all epilepsies occuring in children less than 15 years of age. Patients have severe developmental delay and poor prognosis. The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. Acquired structural abnormalities like hypoxic-ischemic insults and isolated cortical malformations, which represent the most common causes of epileptic encelphalopathy in infancy should be excluded first.
Our EIEE Panel includes sequencing analysis of 30 genes, in addition to deletion/duplication analysis of 21 genes (see information sheet for more details): ALDH7A1, ARFGEF2, ARHGEF9, ARGGEF15, ARX, CDKL5, CHD2, CLCN4, EEF1A2, EFHC1, GNAO1, GRIN2A, KCNH5, KCNQ2, KCNT1, PCDH19, PLCB1, PNKP, PNPO, POLG, SCN1A, SCN2A, SCN8A, SLC25A22, SLC2A1, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SZT2.
Any gene in the Early Infantile Epileptic Encephalopathy Panel can also be ordered individually. Please contact us directly for cost and CPT code information.