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 LockhartPublished 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.