Genetic causes of malformations of cortical development - novel insights into pathogenesis and diagnostic approach
2022
Abstract
Although respective types of malformations of cortical development (MCD) are rare, patients with all MCD constitute a significant proportion of neurology in- and outpatient clinics. Genetic testing of blood- or brain tissue-derived DNA can elucidate genetic causes of MCD and thereby influence future patient management and reproductive choices of patients and their families.
High-quality MRI and detailed phenotype description constitute the cornerstone of MCD diagnostic process. Genetic testing and analysis may take months, and functional studies of variants in novel genes, previously not associated with MCD may last even longer.