Abstract
Cortical malformations arise from in utero disruption of neurogenesis, the process of proliferation, differentiation, and migration of neurons in the developing brain. Finding attributable genetic causes for these malformations will sharpen diagnosis and prognostication for patients. However, the heterogeneous nature of these abnormalities creates challenges for assigning pathogenicity.
The aim of this study was to apply high throughput sequencing methods to a cohort of 205 patients with periventricular nodular heterotopia (PVNH), a cortical malformation characterised by grey matter nodules abutting the lateral ventricles of the brain due to a failure in neural migration.