De novo <i>TANC2</i> variants caused developmental and epileptic encephalopathy and epilepsy
This study suggested TANC2 as a causative gene of epilepsy and DEE. The phenotypic spectrums of TANC2 potentially ranged from early lethality, DEE, epilepsy with NDD, NDD, to mild epilepsy, depending on the damaging effects caused by variants.
Authors
- Mi Jiang
- Yujie Gu
- Yong‐Hong Yi (ORCID: https://orcid.org/0000-0002-6075-2015)
- Peng Zhou (ORCID: https://orcid.org/0000-0001-9863-4201)
- Pengyu Wang (ORCID: https://orcid.org/0000-0002-6336-7673)
- Lei Liu (ORCID: https://orcid.org/0000-0003-3452-4323)
- Wenhui Liu (ORCID: https://orcid.org/0000-0001-7575-5561)
- Wenjun Zhang (ORCID: https://orcid.org/0000-0002-4497-0688)
- Xiao‐Rong Liu (ORCID: https://orcid.org/0000-0002-7769-9564)
- Yulan Li (ORCID: https://orcid.org/0000-0002-4270-1118)
- Wei‐Ping Liao (ORCID: https://orcid.org/0000-0001-9929-9185)
- Yang Tian
- Sheng Luo (ORCID: https://orcid.org/0000-0002-7184-1267)
- Liping Shen
- Rong‐Na Ren
- Li‐Zhi Chen (ORCID: https://orcid.org/0000-0003-3369-1875)
Institutions
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- People's Liberation Army 401 Hospital (CN)
- Zhengzhou Children's Hospital (CN)
- The Fourth People's Hospital of Ningxia Hui Autonomous Region (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1111/epi.18358
- Citations
- 11
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 19.99
Funders
- National Natural Science Foundation of China