Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum
In conclusion, we analyzed the clinical characteristics and genetic variants of a cohort of nine Chinese children with GNAO1 variants and identified three novel GNAO1 variants. Our study expanded the spectrum of genotypes and phenotypes in GNOA1-associated encephalopathy.
Authors
- Shiyue Mei (ORCID: https://orcid.org/0000-0002-3092-5915)
- Jie Deng (ORCID: https://orcid.org/0000-0002-4040-1402)
- Xiaona Wang (ORCID: https://orcid.org/0000-0001-8710-1688)
- Jihong Tang (ORCID: https://orcid.org/0000-0003-1587-554X)
- Bingbing Zhang (ORCID: https://orcid.org/0000-0001-9811-6770)
- Daoqi Mei (ORCID: https://orcid.org/0000-0003-3293-3844)
- Y. Ma (ORCID: https://orcid.org/0009-0004-4837-579X)
- Yu Gu (ORCID: https://orcid.org/0000-0003-3825-6557)
Institutions
- Soochow University (CN)
- Zhengzhou Children's Hospital (CN)
- Beijing Children’s Hospital (CN)
- Children's Hospital of Suzhou University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-18
- DOI
- https://doi.org/10.1186/s13023-025-03984-x
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China