Case report
Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings
Bibliographic Data
| ID | 15518502 |
|---|---|
| Authors | Mustafa A Salih (0000-0002-4379-2111, King Abdulaziz City for Science and Technology), Albandary AlBakheet (King Faisal Specialist Hospital & Research Centre), Rawan Almass (King Faisal Specialist Hospital & Research Centre), Ahlam A Hamed (University of Khartoum), Ahlam A A Hamed, Ali Al‐Odaib (0009-0009-7450-212X, King Faisal Specialist Hospital & Research Centre), Namik Kaya (0000-0001-8912-7507, King Faisal Specialist Hospital & Research Centre, corresponding author) |
| Year | 2024 |
| Volume | 15 |
| Pages | 1501238-1501238 |
| Publication date | 2024-12-23 |
| 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.2024.1501238 |
| PMID | 39763688 |
| OpenAlex | W4405693964 |
| Language | EN |
| References cited | 24 |
The present study reports a novel ALDH7A1 variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment
Epilepsy · Global developmental delay · Intellectual disability · Missense mutation · Mutation · Psychiatry · Pyridoxine · Drug Transport and Resistance Mechanisms · Hemoglobinopathies and Related Disorders · Medicine · Metabolism and Genetic Disorders · Genetics · Internal Medicine · Pediatrics
| Highly cited | No |
|---|