Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy
BackgroundDevelopmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments.Pathogenic variants in KCNQ2, encoding for potassium channel subunit, cause KCNQ2-related DEE.This study aimed to examine the relationships between genotype Side Rails and phenotype in KCNQ2-related DEE