Expanding clinical phenotype in CACNA1C related disorders: familial mesial temporal lobe epilepsy
The findings of this study provide new insights into the complex molecular mechanisms underlying CACNA1C variants and their correlations with patient phenotypes. This research is the first to identify CACNA1C as a potentially new pathogenic gene in FMTLE.
Authors
- Yue Liu (ORCID: https://orcid.org/0009-0007-8136-6627)
- Xintong Guo (ORCID: https://orcid.org/0000-0003-1203-7559)
- Chengzhe Wang (ORCID: https://orcid.org/0009-0000-2296-9355)
- Guanzhong Ni (ORCID: https://orcid.org/0000-0002-2334-3423)
- Yinchao Li
- Heyu Zhang (ORCID: https://orcid.org/0000-0002-4461-2290)
- Ziyi Chen (ORCID: https://orcid.org/0000-0001-6790-1258)
- Sijing Yin
- Yicong Liu (ORCID: https://orcid.org/0000-0002-0265-5196)
- Dingju Long
Institutions
- Sun Yat-sen University (CN)
- The Seventh Affiliated Hospital of Sun Yat-sen University (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
Publication Details
- Journal
- Acta Epileptologica
- Published
- 2025-11-03
- DOI
- https://doi.org/10.1186/s42494-025-00231-5
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Guangdong Province
- Shanghai Jiao Tong University
- National Key Research and Development Program of China