Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Sian Macdonald, Timothy E. Green, Zimeng Ye, Thiuni N. Adikari, Kristian John Bulluss, Saul Alator Mullen, Caitlin A. Bennett, Brialie Forster, Gabi Bradshaw, Wendi Lin, , Michael S. Hildebrand
This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.
Progress in Neuro-Psychopharmacology and Biological Psychiatry · Aug 1, 2026Peer-reviewedGenetic & Genomic Medicine