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Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II

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Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic mutations in the… Click to show full abstract

Brain somatic mutations in mTOR pathway genes are a major genetic etiology of focal cortical dysplasia type II (FCDII). Despite a greater ability to detect low‐level somatic mutations in the brain by deep sequencing and analytics, about 40% of cases remain genetically unexplained.

Keywords: level somatic; focal cortical; cortical dysplasia; low level; dysplasia type; somatic mutations

Journal Title: Annals of Neurology
Year Published: 2023

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