Case report: A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability
This is the first case revealing a novel <i>NACC1</i> c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of <i>NACC1</i> and developmental disorder.
Authors
- Jing Gan (ORCID: https://orcid.org/0000-0001-5255-6324)
- Yimin Hua (ORCID: https://orcid.org/0000-0003-0905-7989)
- Jiahao Wu (ORCID: https://orcid.org/0009-0007-3748-1716)
- Yifei Li
- Di Qie
Institutions
- Sichuan University (CN)
Publication Details
- Journal
- Frontiers in Psychiatry
- Published
- 2024-10-03
- DOI
- https://doi.org/10.3389/fpsyt.2024.1446698
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- National Natural Science Foundation of China