De novo <scp> <i>SRCAP</i> </scp> variants cause developmental and epileptic encephalopathy and the phenotypic spectrum
SRCAP is associated with epilepsy and DEE. The phenotypic spectrum ranges from DEE/multisystem developmental disorders to FE of varied severity, depending on the damage of variants. The development-dependent expression pattern of neuron specificity explains the underlying mechanism of epilepsy outcomes.
Authors
- Su‐Li He (ORCID: https://orcid.org/0009-0007-8734-4170)
- Zi-sheng Lin (ORCID: https://orcid.org/0009-0007-8065-9962)
- Yong‐Hong Yi (ORCID: https://orcid.org/0000-0002-6075-2015)
- Bing‐Mei Li
- Xianghong Meng (ORCID: https://orcid.org/0000-0003-2470-7046)
- Na He (ORCID: https://orcid.org/0000-0002-9712-7782)
- Jie Wang (ORCID: https://orcid.org/0000-0002-1489-7184)
- Xiao‐Yu Liang (ORCID: https://orcid.org/0000-0003-2743-6894)
- Dongming Zhang (ORCID: https://orcid.org/0000-0001-7466-3729)
- Wei‐Ping Liao (ORCID: https://orcid.org/0000-0001-9929-9185)
- Jing Guo (ORCID: https://orcid.org/0000-0002-5504-644X)
- Peng‐Yu Wang (ORCID: https://orcid.org/0009-0001-6848-2021)
- Jin‐Jie Liang (ORCID: https://orcid.org/0009-0004-9600-1258)
- Sheng Luo (ORCID: https://orcid.org/0000-0002-7184-1267)
- Wuchen Wu (ORCID: https://orcid.org/0000-0003-3543-2463)
Institutions
- Shenzhen University (CN)
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Shantou Central Hospital (CN)
- University of Hong Kong - Shenzhen Hospital (CN)
- Guangdong 999 Brain Hospital (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1111/epi.18695
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63