Protective effect of CACNA1A deficiency in oligogenic refractory epilepsy with <i>CACNA1A‐CELSR2</i> digenic mutations
CACNA1A presented multiple effects on epileptogenesis in diverse genetic backgrounds and provided an effective preclinical approach to clarify the net impact of polygenic variants for designing a precisive medicine strategy against refractory epilepsy.
Authors
- Yansong Lin (ORCID: https://orcid.org/0000-0001-6095-4728)
- Siyuan Luo (ORCID: https://orcid.org/0000-0002-2631-648X)
- P.Y. Chen
- Nan Jiang (ORCID: https://orcid.org/0000-0002-4570-180X)
- Tao Huang (ORCID: https://orcid.org/0000-0002-7086-570X)
- Ming‐Feng He
- Rong‐Chao Peng (ORCID: https://orcid.org/0000-0002-9812-5690)
- Jing‐Da Qiao (ORCID: https://orcid.org/0000-0002-4693-8390)
- Xi Liang Dai
- Jiaxin Zhang (ORCID: https://orcid.org/0000-0003-4566-7987)
- Mingyang Sun (ORCID: https://orcid.org/0000-0003-3181-6793)
- Jie Luo (ORCID: https://orcid.org/0000-0002-0791-1419)
- Wei‐Ping Liao (ORCID: https://orcid.org/0000-0001-9929-9185)
- Sheng Luo (ORCID: https://orcid.org/0000-0002-7184-1267)
- Ruina Huang (ORCID: https://orcid.org/0009-0003-4028-7202)
- Xuefei Zhang
- Tongxin Han
- ChengYan Liu
Institutions
- Guangdong Medical College (CN)
- Shanxi Medical University (CN)
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- First Hospital of Shanxi Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1111/epi.18390
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Guangzhou Medical University
- National Natural Science Foundation of China
- Basic and Applied Basic Research Foundation of Guangdong Province