Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy
The PPP1R12A c.2533 C > T variant may explain the neonatal seizures in the present case. The findings of this study expand the spectrum of PPP1R12A variants and highlight the potential significance of truncated proteins in the pathogenesis of GUBS.
Authors
- Rong Yang (ORCID: https://orcid.org/0000-0002-0193-6949)
- Xinxin Wang
- Xiaoyan Li (ORCID: https://orcid.org/0000-0003-3145-0517)
- Huiqin Wang
- Ling Tong
- Xiaoguang Yin
Institutions
- Anhui Medical University (CN)
- Anhui Provincial Children's Hospital (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-09-27
- DOI
- https://doi.org/10.1186/s12920-024-02009-z
- Citations
- 2
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.10