P399: Multigenerational presentation of MARK2-related disorders

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Authors: Hope Northrup, Kate Richardson, Laura S. Farach, Ava Henson
Cited by: 0

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