Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics

• Published in: Children (Basel) 2023-03, Vol.10 (3), p.556
• Main Authors: Chang, Yu-Tzu, Hong, Syuan-Yu, Lin, Wei-De, Lin, Chien-Heng, Lin, Sheng-Shing, Tsai, Fuu-Jen, Chou, I-Ching
• Format: Article
• Language: English
• Subjects: Congenital diseases; Convulsions & seizures; developmental delay; Disease; Encephalopathy; Epilepsy; epileptic encephalopathy; Genes; Genetic aspects; Genetic screening; Genetic testing; Genetics; Genomes; Genomics; Intellectual disabilities; Laboratories; Metabolism; Methods; Mutation; next-generation sequencing; Patients; Pediatric research; Precision medicine; Review; whole-genome sequencing
• ISSN: 2227-9067; 2227-9067
• DOI: 10.3390/children10030556

Advances in disease-related gene discovery have led to tremendous innovations in the field of epilepsy genetics. Identification of genetic mutations that cause epileptic encephalopathies has opened new avenues for the development of targeted therapies. Clinical testing using extensive gene panels, exomes, and genomes is currently accessible and has resulted in higher rates of diagnosis and better comprehension of the disease mechanisms underlying the condition. Children with developmental disabilities have a higher risk of developing epilepsy. As our understanding of the mechanisms underlying encephalopathies and epilepsies improves, there may be greater potential to develop innovative therapies tailored to an individual's genotype. This article provides an overview of the significant progress in epilepsy genomics in recent years, with a focus on developmental and epileptic encephalopathies in children. The aim of this review is to enhance comprehension of the clinical utilization of genetic testing in this particular patient population. The development of effective and precise therapeutic strategies for epileptic encephalopathies may be facilitated by a comprehensive understanding of their molecular pathogenesis.