Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.

Wei Shern LeeSarah E M StephensonKate PopeGreta GilliesWirginia MaixnerEmma Macdonald-LaursDuncan MacGregorColleen D'ArcyGraeme JacksonA Simon HarveyRichard J LeventerPaul J Lockhart

Published in: Neurology (2020)

BOSD is associated with mTOR pathway dysregulation and shares common genetic etiologies and pathogenic mechanisms with other forms of focal and hemispheric cortical dysplasia, suggesting these disorders are on a genetic continuum.

Keyphrases

genome wide
copy number
dna methylation
cell proliferation
gene expression