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Somatic mosaicism in focal epilepsies

Samuel Gooley1,2, Piero Perucca1,2,3,4,5, Caitlin Tubb1

  • 1Epilepsy Research Centre, Department of Medicine, University of Melbourne.

Current Opinion in Neurology
|January 18, 2024
PubMed
Summary

Brain somatic mosaicism is increasingly recognized in focal epilepsies, revealing distinct molecular pathway dysfunctions. New discoveries are improving diagnostic yields, potentially reclassifying common epilepsies as genetic disorders.

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