Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.

doi:10.1038/s41588-023-01547-z

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Article

Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.

Nature genetics - 1 Nov 2023

Miller Katherine E, Rivaldi Adithe C, Shinagawa Noriyuki, Sran Sahib, Navarro Jason B, Westfall Jesse J, Miller Anthony R, Roberts Ryan D, Akkari Yassmine, Supinger Rachel, Hester Mark E, Marhabaie Mohammad, Gade Meethila, Lu Jinfeng, Rodziyevska Olga, Bhattacharjee Meenakshi B, Von Allmen Gretchen K, Yang Edward, Lidov Hart G W, Harini Chellamani, Shah Manish N, Leonard Jeffrey, Pindrik Jonathan, Shaikhouni Ammar, Goldman James E, Pierson Christopher R, Thomas Diana L, Boué Daniel R, Ostendorf Adam P, Mardis Elaine R, Poduri Annapurna, Koboldt Daniel C, Heinzen Erin L, Bedrosian Tracy A

Abstract excerpt

Somatic 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. Genomic...

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PMID: 37872450
DOI: 10.1038/s41588-023-01547-z
PMCID: PMC10714261

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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