Reverse phenotyping and artificial intelligence in identifying novel and De Novo variants in the RAB39B gene associated with X linked epilepsy and intellectual disability
Pediatric epilepsy, which affects 0.5 1 of children predominantly those under 5 years of age is frequently associated with cognitive challenges, drug resistance, and increased mortality.
Authors
- Nathalie Yepes Madrid (ORCID: https://orcid.org/0000-0002-2740-2072)
Publication Details
- Journal
- Journal of Artificial Intelligence & Robotics
- Published
- 2024-10-25
- DOI
- https://doi.org/10.52768/3067-7947/1011
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00