Case report
A novel de novo variant of Nacc1 caused epileptic encephalopathy and intellectual disability
Bibliographic Data
| ID | 15519396 |
|---|---|
| Authors | Jiahao Wu (0000-0002-2417-8554, Sichuan University), Jing Gan (0000-0001-5255-6324, Sichuan University), Yimin Hua (0000-0003-0905-7989, Sichuan University), Yifei Li (0000-0001-5156-0161, Sichuan University, corresponding author), Di Qie (Sichuan University, corresponding author) |
| Year | 2024 |
| Volume | 15 |
| Pages | 1446698-1446698 |
| Publication date | 2024-10-03 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Frontiers in Psychiatry (JOURNAL) |
| Journal identifiers | ISSN: 1664-0640 • E-ISSN: 1664-0640 |
| Publisher | Frontiers Media (PUBLISHER • CH) |
| DOI | 10.3389/fpsyt.2024.1446698 |
| PMID | 39421062 |
| OpenAlex | W4403079560 |
| Language | EN |
| References cited | 27 |
This is the first case revealing a novel NACC1 c.903A>G variant that induced a neurological impairment in an infant. This report expanded the understanding of the non-domain-associated variant of NACC1 and developmental disorder
Encephalopathy · Epilepsy · Intellectual disability · Psychiatry · Genetics and Neurodevelopmental Disorders · Genomics and Rare Diseases · Medicine · Neuroscience · Psychology · RNA and protein synthesis mechanisms
| Citation velocity | historical |
|---|---|
| Highly cited | No |