Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis

被引：1
|
作者：
Ye, Zimeng [1 ]
Lin, Sufang [2 ]
Zhao, Xia [2 ]
Wallis, Mathew [3 ,4 ,5 ,6 ]
Gao, Xinyi [7 ]
Sun, Li [7 ]
Wu, Jiarui [7 ]
Duan, Jing [2 ]
Yao, Yi [2 ]
Li, Lin [2 ]
Chen, Li [2 ]
Cao, Dezhi [2 ]
Hu, Zhanqi [2 ]
Zhang, Victor W. [7 ]
Berkovic, Samuel F. [1 ,6 ]
Scheffer, Ingrid E. [1 ,6 ,8 ,9 ,10 ,13 ]
Liao, Jianxiang [2 ,11 ]
Hildebrand, Michael S. [1 ,6 ,8 ,12 ]
机构：
[1] Univ Melbourne, Epilepsy Res Ctr, Dept Med, Heidelberg, Vic, Australia
[2] Shenzhen Childrens Hosp, Epilepsy Ctr, Dept Neurol, Shenzhen, Guangdong, Peoples R China
[3] Royal Hobart Hosp, Tasmania Clin Genet Serv, Hobart, Tas, Australia
[4] Univ Tasmania, Sch Med, Hobart, Tas, Australia
[5] Univ Tasmania, Menzies Inst Med Res, Hobart, Tas, Australia
[6] Austin Hlth, Heidelberg, Vic, Australia
[7] AmCare Genom Lab, Guangzhou, Guangdong, Peoples R China
[8] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic, Australia
[9] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic, Australia
[10] Florey Inst, Parkville, Vic, Australia
[11] Shenzhen Childrens Hosp, Epilepsy Ctr, Surg Div, 7019 Yitian Rd, Shenzhen 518038, Guangdong, Peoples R China
[12] Univ Melbourne, Epilepsy Res Ctr, Dept Med, 245 Burgundy St, Heidelberg, Vic 3084, Australia
[13] Univ Melbourne, Epilepsy Res Ctr, Dept Med, 245 Burgundy St,, Heidelberg, Vic 3084, Australia
来源：
PEDIATRIC NEUROLOGY | 2024年 / 150卷
基金：
英国医学研究理事会;
关键词：
Exome sequencing; Variant interpretation; Mosaicism; Recurrence risk; Tuberous sclerosis complex; SCLEROSIS; GENETICS;
D O I：
10.1016/j.pediatrneurol.2023.10.008
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：37 / 39
页数：3
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