New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy
This study is the first to report a gene inversion in <i>PPP3CA</i>-related DEE. Patients with only epileptic spasms were more prevalent in those with CD variants, compared to those with RD variants. Conversely, patients with multiple seizure types were more common among those with RD variants. The most frequently diagnosed epileptic syndrome was IESS. Additionally, comorbid ASD were more commonly observed in patients with CD variants than in those with RD variants.
Authors
- Cheng Yang (ORCID: https://orcid.org/0000-0003-4060-2746)
- Wenwei Liu (ORCID: https://orcid.org/0000-0002-1134-3194)
- Yuehua Zhang (ORCID: https://orcid.org/0000-0003-1432-5423)
- Ying Yang (ORCID: https://orcid.org/0000-0002-8149-1109)
- Siyuan Ouyang (ORCID: https://orcid.org/0009-0001-3270-8607)
- Miaomiao Cheng (ORCID: https://orcid.org/0000-0002-5088-6319)
- Ting Wang (ORCID: https://orcid.org/0000-0002-7518-6298)
- Xueyang Niu (ORCID: https://orcid.org/0000-0002-8859-2535)
- Yonghua Yang (ORCID: https://orcid.org/0000-0002-8647-1158)
- Quanzhen Tan
Institutions
- Capital Medical University (CN)
- Peking University (CN)
- First Affiliated Hospital of Xi'an Jiaotong University (CN)
- Peking University First Hospital (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2025-06-06
- DOI
- https://doi.org/10.3389/fnins.2025.1570997
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00