Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

doi:10.1093/brain/awac117

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Article

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Brain : a journal of neurology - 27 Aug 2022

Lai Dulcie, Gade Meethila, Yang Edward, Koh Hyun Yong, Lu Jinfeng, Walley Nicole M, Buckley Anne F, Sands Tristan T, Akman Cigdem I, Mikati Mohamad A, McKhann Guy M, Goldman James E, Canoll Peter, Alexander Allyson L, Park Kristen L, Von Allmen Gretchen K, Rodziyevska Olga, Bhattacharjee Meenakshi B, Lidov Hart G W, Vogel Hannes, Grant Gerald A, Porter Brenda E, Poduri Annapurna H, Crino Peter B, Heinzen Erin L

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-AKT-mTOR-signalling pathway in individuals with hemimegalencephaly and focal cortical dysplasia (type II), and...

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PMID: 35441233
DOI: 10.1093/brain/awac117
PMCID: PMC9612793

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