Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis

  • Kai Gao
  • Yujia Zhang
  • Ling Zhang
  • Weijing Kong
  • Han Xie
  • Jingmin Wang
  • Ye Wu
  • Xiru Wu
  • Xiaoyan Liu
  • Yuehua Zhang
  • Feng Zhang
  • Albert Cheung-Hoi Yu
  • Yuwu JiangEmail author
Part of the Advances in Neurobiology book series (NEUROBIOL, volume 21)


Epilepsy is one of the most common complex neurological diseases. It is frequently associated with intellectual and developmental disabilities (ID/DD). In recent years, copy number variation (CNV), especially microdeletion, was proven to be a potential key factor of genetic epilepsy. In this paper, the authors tested the hypothesis that the large de novo rare CNV is an important cause of epilepsy with ID/DD. We performed a custom array comparative genomic hybridization (aCGH) to detect the CNVs of 96 Chinese epileptic patients with ID/DD. The aCGH was designed with a higher density probe coverage of 320 genes known to be involved in epilepsy and ID/DD with lower density whole-genome backbone coverage. We detected 9 large de novo rare microdeletions from 8 patients. These CNVs are located on 2q24.1, 2q33.1-q34, 5q13.2 (2 similar CNVs), 5q33.1-q34, 17p13.2, 22q11.21-q11.22 (2 identical CNVs) and Xp22.31. We also found that only a few genes in the CNVs are known epilepsy related genes. By analysis with systems biology, we found most of the genes are interacting genes known to be epilepsy related genes. We also found a gene motif “BGNADP”, constructed by BTD, GALNT10, NMUR2, AUTS2, DLG2 and PTPRD, would be a key motif in epilepsy and ID/DD. These findings strongly indicate that some large de novo rare microdeletion is an important pathological cause of epilepsy with ID/DD. Our study also found a gene motif “BGNADP” should be a key small network in epilepsy with ID/DD.


Epilepsy Copy number variation System biology Microdeletion Intellectual and developmental disabilities 

Supplementary material

331367_1_En_9_MOESM1_ESM.xls (34 kb)
Supplementary Table 9.1 (XLS 34 kb)


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Kai Gao
    • 1
  • Yujia Zhang
    • 1
  • Ling Zhang
    • 2
  • Weijing Kong
    • 1
  • Han Xie
    • 1
  • Jingmin Wang
    • 1
  • Ye Wu
    • 1
  • Xiru Wu
    • 1
  • Xiaoyan Liu
    • 1
  • Yuehua Zhang
    • 1
  • Feng Zhang
    • 2
  • Albert Cheung-Hoi Yu
    • 3
    • 4
  • Yuwu Jiang
    • 1
    Email author
  1. 1.Department of PediatricsPeking University First Hospital, Peking University Health Science CenterBeijingChina
  2. 2.Institute of Reproduction and DevelopmentObstetrics and Gynecology Hospital of Fudan UniversityShanghaiChina
  3. 3.Laboratory for Functional Study of Astrocytes, Department of NeurobiologySchool of Basic Medical Sciences, Key Laboratory for Neuroscience, Ministry of Education, National Health and Family Planning Commission, Neuroscience Research Institute, Peking UniversityBeijingChina
  4. 4.Hai Kang Life Corporation Ltd.BeijingChina

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