Figure 1.

Clinical pathway for genomic evaluation of pediatric epilepsy. A clinical pathway for genomic management of pediatric patients with epilepsy begins with a clinical diagnosis of epilepsy by a neurologist. This is followed by routine EEG and brain MRI. If the patient has a diagnostic MRI and/or EEG, the patient proceeds to targeted testing and individualized ASM followed by subspecialty referral for further management by epileptologists and/or genetic specialists. If the MRI and/or EEG are not diagnostic, the patient is started on an empiric course of ASM. If the patient has either two failures of empiric therapy or one failure of empiric therapy and an additional risk factor, then the patient has genomic epilepsy testing performed (gene panel vs. exome [proband-only or trio]). After genomic testing, the patient is then referred to subspecialty consultation with an epileptologist and/or genetic specialist. *Standard of care testing for children with developmental delay includes CMA and fragile X (if male). (ASD) Autism spectrum disorder, (ASM) antiseizure medication, (CMA) chromosomal microarray, (EEG) electroencephalogram, (ID) intellectual disability, (MRI) magnetic resonance imaging.