P399: Multigenerational presentation of MARK2-related disorders
Abstract
Our recommendations for this patient were to proceed with targeted variant analysis in all siblings, continue seizure management with neurology as well as maintain all interventional and supportive therapies.
Fields of Study & Subjects
Genomics and Rare Diseases
Epilepsy research and treatment
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103893–103893
- Publication date
- 1 January 2026
- Language
- EN