Abstracts

Rationale: Epilepsy is a common neurological disorder in pediatric patients. The underlying etiologies of epilepsy may be caused by genetic disorders, metabolic diseases, or structural abnormalities. With the advancement of molecular biology, whole-genome sequencing (WGS) has been considered as a usefully diagnostic utility in these patients. The aim of this study is to assess the identification of molecular defects by WGS in pediatric patients with epilepsies. Methods: From January 2016 to August 2017, patients who were diagnosed with epilepsies and received WGS were collected. Clinical information including detailed history taking, physical and neurological examinations were obtained. We developed bioinformatic, interpretive, and validation pipelines for WGS in a certified clinical laboratory to identify sequence variants underlying disease phenotypes. Results: Nineteen patients, 13 males and 6 females, underwent WGS. Sixteen of the 19 patients (84%) carried highly likely causative mutations in accordance with clinical manifestations. The highly likely causative mutated genes included ADSL, ALDH7A1, EEF1A2, GFM1, KIF1A, PDHA1, SCN1A, SLC13A5, SMC1A, STXBP1, and UBTF. Among the 16 patients, 8 were autosomal dominant diseases, 7 were autosomal recessive diseases, and one was X-linked disease. Five patients had de novo mutations. Conclusions: Clinical manifestations and the causative mutated genes were quite diverse in pediatric epilepsies. Whole-genome sequencing identified the underlying genetic defect in 84% of pediatric patients with epilepsies. Funding: No funding.