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Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders

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WOS体系：
Pubmed体系：

收录情况： ◇ SCIE

作者：
Zhang Liping[1] * ; Li Xu-Ying[2] * ; Xu Fanxi[2] * ; Gao Lehong[3] ; Wang Zhanjun[3] ; Wang Xianling[3] ; Li Xian[2] ; Liu Mengyu[2] ; Zhu Junge[2] ; Yao Tingyan[2] ; Ye Jing[3] ; Qi Xiao-Hong[1] ; Wang Yaqing[4] ; Zhao Guoguang[5,*1] ; Wang Chaodong[2,*2] ;
机构： [1]Department of Pediatrics, Xuanwu Hospital of Capital Medical University, Beijing, China. [2]Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China. [3]Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, China. [4]Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, China. [5]Department of Neurosurgery, Xuanwu Hospital of Capital Medical University, Clinical Research Center for Epilepsy Capital Medical University, Beijing, China.
出处：
DOI： 10.1002/mgg3.2243
ISSN：

关键词： epilepsy epileptic encephalopathy genetic diagnosis multidisciplinary molecular consultation neurodevelopmental delay in

摘要：
Epilepsy (EP) is a common neurological disease in which 70-80% are thought to have a genetic cause. In patients with epilepsy, neurodevelopmental delay (NDD) was prevalent. Next generation of sequencing has been widely used in diagnosing EP/NDD. However, the diagnostic yield remains to be 40%-50%. Many reanalysis pipelines and software have been developed for automated reanalysis and decision making for the diseases. Nevertheless, it is a highly challenging task for smaller genetic centers or a routine pediatric practice. To address the clinical and genetic "diagnostic odyssey," we organized a Multidisciplinary Molecular Consultation (MMC) team for molecular consultation for 202 children with EP/NDD patients referred by lower level hospitals.All the patients had undergone an aligned and sequential consultations and discussions by a "triple reanalysis" procedure by clinical, genetic specialists, and researchers.Among the 202 cases for MMC, we totally identified 47 cases (23%) harboring causative variants in 24 genes and 15 chromosomal regions after the MMC. In the 15 cases with positive CNVs, 3 cases harbor the deletions or duplications in 16p11.2, and 2 cases for 1p36. The bioinformatical reanalysis revealed 47 positive cases, in which 12 (26%) were reported to be negative, VUS or incorrectly positive in pre-MMC reports. Additionally, among 87 cases with negative cases, 4 (5%) were reported to be positive in pre-MMC reports.We established a workflow allowing for a "one-stop" collaborative assessments by experts of multiple fields and helps for correct the diagnosis of cases with falsenegative and -positive and VUS genetic reports and may have significant influences for intervention, prevention and genetic counseling of pediatric epilepsy and neurodevelopmental disorders.© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

基金：
Beijing Municipal Medical Science Institute-Public Welfare Development Reform Pilot Project, Grant/Award Number: 2019-2; National Natural Science Foundation of China, Grant/ Award Number: 82171412; The Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority, Grant/ Award Number: XTYB201810
语种：
外文
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WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2022]版：
大类 | 4 区 医学
小类 | 4 区 遗传学
最新[2023]版：
大类 | 4 区 医学
小类 | 4 区 遗传学
JCR分区：
出版当年[2021]版：
Q3 GENETICS & HEREDITY
最新[2023]版：
Q4 GENETICS & HEREDITY

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]Department of Pediatrics, Xuanwu Hospital of Capital Medical University, Beijing, China.
共同第一作者：
通讯作者：
通讯机构： [2]Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China. [5]Department of Neurosurgery, Xuanwu Hospital of Capital Medical University, Clinical Research Center for Epilepsy Capital Medical University, Beijing, China. [*1]Department of Neurosurgery, Xuanwu Hospital of Capital Medical University, Clinical Research Center for Epilepsy Capital Medical University, Beijing, China. [*2]Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases, No. 45 Changchun Street, Beijing 100053, China.
推荐引用方式(GB/T 7714)：
Zhang Liping,Li Xu-Ying,Xu Fanxi,et al.Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders[J].MOLECULAR GENETICS & GENOMIC MEDICINE.2023,11(11):doi:10.1002/mgg3.2243.
APA：
Zhang Liping,Li Xu-Ying,Xu Fanxi,Gao Lehong,Wang Zhanjun...&Wang Chaodong.(2023).Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.MOLECULAR GENETICS & GENOMIC MEDICINE,11,(11)
MLA：
Zhang Liping,et al."Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders".MOLECULAR GENETICS & GENOMIC MEDICINE 11..11(2023)

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