Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
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PRIMARY RESEARCH
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Pathogenic variants identified by wholeexome sequencing in 43 patients with epilepsy Linlin Zhang1,2†, Jinshuang Gao1,2†, Hailiang Liu2,3, Yuan Tian1,2, Xiaoli Zhang4,2, Wei Lei3, Ying Li1,2, Yaqing Guo1,2, Haiyang Yu1,2, Erfeng Yuan1,2, Lisi Liang3, Shihong Cui1,2,5,6* and Xiaoan Zhang2,7,8*
Abstract Background: 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. Methods: 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). Results: 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. Conclusion: 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. Keywords: Epilepsy, Whole-exome sequencing (WES), Diagnostic yield, Pathogenic, De novo
Introduction Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. It affects about 3.5– 6.5 per 1000 children [1] and 10.8 per 1000 elderly people [2], and 2 to 4 million new cases are diagnosed each year [3]. The characteristic phenotypic features of epilepsy are widely variable, such as infantile spasms, * Correspondence: [email protected]; [email protected] † Linlin Zhang and Jiwnshuang Gao contributed equally to this work. 1 Clinical Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, People’s Republic of China 2 Henan Academician Workstation of Genetic Diagnosis and Precision Medicine, Zhengzhou, Henan, People’s Republic of China Full list of author information is available at the end of the article
childhood absence epilepsy, and juvenile myoclonic epilepsy because of the ages, and intellectual disability (ID)/ mental retardation (MR) is the most common comorbidity [4]. The onset of epilepsy is varied from infancy to adulthood [5]. Ohtahara syndrome (OS) is characterized that epileptic occurring in the first few months of life. Affected children may progress onto other epilepsy syndromes such as West syndrome, or they may die in infancy [6]. Meanwhile, individuals with epilepsy are reported to sho
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