Sahib Sran

Jun 28, 2024 | digitalcommons.library.tmc.edu | Katherine Miller |Adithe C. Rivaldi |Noriyuki Shinagawa |Sahib Sran

Home > UTHealth > McGovern Medical School > Journal Articles > 1673 Brain mosaicism, neurodevelopment, cerebral cortex, meiotic nondisjunction, single-cell, epilepsy, hyaline astrocytic inclusions DOWNLOADS COinS...

Oct 23, 2023 | nature.com | Adithe C. Rivaldi |Noriyuki Shinagawa |Sahib Sran |Mark Hester |Mohammad Marhabaie |Manish Shah | +4 more

AbstractSomatic mosaicism is a known cause of neurological disorders, including developmental brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic genetic alterations arising in fetal development. Here we describe post-zygotic rescue of meiotic errors as an alternate origin of brain mosaicism in patients with focal epilepsy who have mosaic chromosome 1q copy number gains.