Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.
Mark F BennettMichael S HildebrandSayaka KayumiMark A CorbettSachin GuptaZimeng YeMichael KrivanekRosemary BurgessOlivia J HenryJohn A DamianoAmber BoysJozef GeczMelanie BahloIngrid Eileen SchefferSamuel Frank BerkovicPublished in: Neurology. Genetics (2022)
gene in FCD and supporting a dual-pathway 2-hit model. If confirmed in other cases, this would extend the 2-hit model to pathogenic variants in different genes in critical, intersecting pathways in a malformation of cortical development. Detection of low allele fraction somatic second hits is challenging but promises to unravel the molecular architecture of FCDs.