Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings
The present study reports a novel <i>ALDH7A1</i> variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment.
Authors
- Rawan Almass
- Mustafa A. Salih (ORCID: https://orcid.org/0000-0002-4379-2111)
- Albandary AlBakheet
- Ali Al‐Odaib (ORCID: https://orcid.org/0009-0009-7450-212X)
- Namik Kaya (ORCID: https://orcid.org/0000-0001-8912-7507)
- Ahlam A. Hamed
Institutions
- King Abdulaziz City for Science and Technology (SA)
- University of Khartoum (SD)
- King Faisal Specialist Hospital & Research Centre (SA)
Publication Details
- Journal
- Frontiers in Psychiatry
- Published
- 2024-12-23
- DOI
- https://doi.org/10.3389/fpsyt.2024.1501238
- Citations
- 4
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- King Salman Center for Disability Research