A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient
This study identified a novel likely pathogenic GABRA2 extracellular domain variant in a Chinese family causing the DEE phenotype. The results expand the genotypic and phenotypic spectrum of GABRA2-related DEE.
Authors
- Rui Tao (ORCID: https://orcid.org/0009-0007-8561-8182)
- Bao‐Tian Wang (ORCID: https://orcid.org/0000-0002-4032-3344)
- Junhong Jiang (ORCID: https://orcid.org/0000-0001-6205-9567)
- De Wu (ORCID: https://orcid.org/0000-0002-8493-5596)
- Li Yang (ORCID: https://orcid.org/0000-0001-5973-3653)
- Ran Hua
- Xingyu Wan
Institutions
- Anhui Medical University (CN)
- Chaohu Hospital of Anhui Medical University (CN)
- People's Hospital of Bishan District (CN)
- First Affiliated Hospital of Anhui Medical University (CN)
- Second Affiliated Hospital of Anhui Medical University (CN)
- Anhui Mental Health Center (CN)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-12-31
- DOI
- https://doi.org/10.1002/acn3.52262
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- National Natural Science Foundation of China
- Anhui Medical University