Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy

• Published in: Human genomics Vol. 14; no. 1; pp. 44 - 8
• Main Authors: Zhang, Linlin, Gao, Jinshuang, Liu, Hailiang, Tian, Yuan, Zhang, Xiaoli, Lei, Wei, Li, Ying, Guo, Yaqing, Yu, Haiyang, Yuan, Erfeng, Liang, Lisi, Cui, Shihong, Zhang, Xiaoan
• Format: Journal Article
• Language: English
• Published: England BioMed Central 07.12.2020; BMC
• Subjects: Comorbidity; Convulsions & seizures; De novo; Diagnosis; Diagnostic yield; Encephalopathy; Epilepsy; Families & family life; Family medical history; Genes; Genetic analysis; Genetic factors; Hospitals; Mutation; Neurological diseases; Pathogenic; Patients; Primary Research; Proteins; Seizures; Whole-exome sequencing (WES); Whole-exome sequencing (WES); Diagnostic yield; Epilepsy; Pathogenic; De novo
• ISSN: 1479-7364; 1473-9542; 1479-7364
• DOI: 10.1186/s40246-020-00294-0

Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis is important to treat and manage this disease. In this study, we have recruited 43 epileptic encephalopathy patients and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES). Fourteen patients (32.6%, 14/43) had positive genetic diagnoses, including fifteen mutations in fourteen genes. The overall diagnostic yield was 32.6%. A total of 9 patients were diagnosed as pathogenic mutations, including 4 variants had been reported as pathogenic previously and 6 novel variants that had not been reported previously. Therefore, WES heralds promise as a tool for clinical diagnosis of patients with genetic disease. Early establishment of a specific diagnosis, on the one hand, is necessary for providing an accurate prognosis and recurrence risk as well as optimizing management and treatment options. On the other hand, to unveil the genetic architecture of epilepsy, it is of vital importance to investigate the phenotypic and genetic complexity of epilepsy.