Article

Somatic mutation involving diverse genes leads to a spectrum of focal cortical malformations

2021-12-29

Abstract excerpt

Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants have been identified in many genes within the PI3K-AKT3-mTOR-signaling pathway in individuals with hemimegalencephaly and focal cortical dysplasia (type II), and more...

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Literature Corpus work: bf322465-7aff-58e0-960c-74e149f505c4
DOI: 10.1101/2021.12.22.21267563

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