Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
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 epilepsy patients with mosaic chromosome 1q copy number gains.