Article
RAS pathway: The new frontier of brain mosaicism in epilepsy.
Neurobiology of disease - 1 May 2023
Sran Sahibjot, Bedrosian Tracy A
Abstract excerpt
As cells divide during development, errors in DNA replication and repair lead to somatic mosaicism - a phenomenon in which different cell lineages harbor unique constellations of genetic variants. Over the past decade, somatic variants that disrupt mTOR signaling, protein glycosylation, and other functions during brain development have been linked to cortical malformations and focal epilepsy. More recently,...
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