外显子组测序
癫痫
队列
医学
遗传诊断
儿科
外显子组
精密医学
癫痫综合征
基因检测
人口
队列研究
生物信息学
医学遗传学
内科学
基因
遗传学
突变
精神科
病理
生物
作者
Lin Yang,Yanting Kong,Xinran Dong,Liyuan Hu,Yifeng Lin,Xiang Chen,Qi Ni,Yulan Lu,Bingbing Wu,Huijun Wang,Qian Lü,Wenhao Zhou
标识
DOI:10.1038/s41436-018-0091-8
摘要
PurposeGenetic diagnosis for children suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies.MethodsWe performed exome sequencing (ES) or targeted sequencing on 733 children with epilepsy onset within the first year of life. We subgrouped our patients based on the onset age of seizure into neonatal and before 1 year (1–12 months), to compare the clinical and genetic features.ResultsThe subgroups with different onset age of seizure showed different pathogenic variant spectrum, and the 1-year age group was more likely to have developmental delays than the neonate group (p = 0.000614). The diagnostic rate was 26.7% for targeted sequencing using a 2742-gene panel, and 42% for ES. We identified 12 genes, which covered 48.7% of diagnostic cases. Our data revealed that 41.9% of patients in the neonate group and 49.7% patients in the 1-year group had treatment options based on molecular diagnosis.ConclusionThe 12 most commonly implicated genes in this cohort and the genes with treatment options should be considered as part of the essential panel for early diagnosis of epilepsy onset, if large medical exome analyses or ES are not feasible as first-tier analysis. Genetic results are beginning to improve therapy by antiepileptic medication selections and precision medicine approaches.
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