Clinical and Molecular Characterisation of Children with Developmental and Epileptic Disorders: Findings from Whole Exome Sequencing

Summary

A case series of eight children with suspected Developmental and Epileptic Encephalopathy (DEE) evaluated by whole exome sequencing, identifying pathogenic variants across seven genes (KCNQ2, DNM1, SCN8A, ATP6V1A, EEF1A2, ATP1A3, SPTAN1), all autosomal dominant and mostly de novo - highlighting the value of WES for molecular diagnosis and genetic counselling in unexplained epileptic encephalopathy.