Article
Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.
Annals of neurology - 1 Jun 2023
Kim Ja Hye, Park Ji-Hyung, Lee Junehawk, Park Jung Woo, Kim Hyun Jung, Chang Won Seok, Kim Dong-Seok, Ju Young Seok, Aronica Eleonora, Lee Jeong Ho
Abstract excerpt
OBJECTIVE: 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. METHODS: We included 2 independent cohorts consisting of 21 patients with mutation-negative FCDII without apparent...
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