Diagnosis and follow-up of a PCDH19 epilepsy patient
WES confirmed the diagnosis of DEE9, and subsequent follow-up highlighted the effectiveness of the treatment. Therefore, genetic testing can improve the diagnosis of DEE9, particularly in cases with atypical symptoms, and provide valuable insights for genetic counseling and clinical treatment strategies.
Authors
- Lipeng Chen (ORCID: https://orcid.org/0000-0003-1415-4767)
- Yongjian Yue (ORCID: https://orcid.org/0000-0003-4184-0025)
- Bo Li (ORCID: https://orcid.org/0000-0002-7979-8339)
- Zhiping Liu (ORCID: https://orcid.org/0000-0001-7272-6917)
- Yanzhao Chen (ORCID: https://orcid.org/0000-0002-5657-413X)
- Yang Xia (ORCID: https://orcid.org/0000-0003-3990-2792)
- Keying Zhou
Institutions
- Southern University of Science and Technology (CN)
- Shanghai University of Traditional Chinese Medicine (CN)
- Longhua Hospital Shanghai University of Traditional Chinese Medicine (CN)
- Southern Medical University Shenzhen Hospital (CN)
- Shenzhen Luohu People's Hospital (CN)
- Shenzhen Second People's Hospital (CN)
Publication Details
- Journal
- Psychiatric Genetics
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1097/ypg.0000000000000404
- Primary Topic
- Epilepsy research and treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00