Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome

Abstract

Early infantile epileptic encephalopathies (EIEEs) are a group of disorders with seizures presenting early in life. EIEE is associated with significant mortality and morbidity. Approximately 50 percent of the affected patients die in infancy. Those who survive develop therapy-resistant epilepsy and significant developmental delays1. Structural brain lesions, metabolic disorders and genetic mutations, including KCNQ2, have been linked to EIEE1, 2,3. Here, we report two neonates with EIEE due to KCNQ2 mutations, one with a novel mutation diagnosed through the rapid genomic sequencing program at Rady Children’s Institute for Genomic Medicine (RCIGM) and one diagnosed classically, and demonstrate how rapid diagnosis positively impacted care.