Correlation Between Genotype And Clinical Phenotype Of Early Onset Epilepsy Encephalopathy

Objective To analyze the clinical features and unusual clinic phenotype of children with early-onset epileptic encephalopathies(EOEE)of unknown cause,and find their gene mutations.Methods The clinical data of 78 children with EOEE,from September 2015 to October 2017 at neurology department of Wuhan Children's Hospital,were obtained and analyzed,with the follow-up observation.We collected the peripheral blood specimens from 78 children with EOEE and their parents,and detect their gene mutations by means of whole-exome sequencing(WES).Results Among 78 cases with EOEE of unknown cause,3 cases incorporate with dyskinesia,5 cases incorporate with characteristic of with autism;23 cases with Dravet syndrome,20 cases with West syndrome,1 case with glucose transporter 1 deficiency syndrome,1 case with Pyridoxine-dependent epilepsy,1 case with epilepsy and mental retardation limited to females,1 case with epilepsy of infancy with migrating focal seizures,and 31 cases were diagnosed as non-specific EOEE.28 in 78 cases were detected suspected pathogenic mutations,such as SCN1 A,PCDH19,SCN3 A,DEPDC5,TSC1,SCN2 A,SCN1A,KCNQ2,SLC2A1,and ALDH7A1.Conclusions EOEE of unknown cause are associated with high phenotypic heterogeneity and poor prognosis,dyskinesia and autistic manifestation can also be the clinical features of EOEE.WES can demonstrate new pathogenic or suspected pathogenic mutations in EOEE of unknown cause.This research expands the gene bank of EOEE and improves the understanding about unexplained EOEE.