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Somatic mutations occur after fertilization and lead to more than one genotype within an organism (mosaicism). These mutations are mostly studied in cancers but are of increasing interest in the role of neurodevelopment disorders. Malformations of cortical development (MCDs) have a wide spectrum of phenotypes, in particular those that are mild (e.g., a forme fruste of a disease), compelling suspicion for a role of somatic mutations. The authors studied 158 persons with double cortex, polymicrogyria with megalencephaly, periventricular heterotopia, or pachygyria. All phenotypes were defined in detail by brain magnetic resonance imaging. The aims of the study were to test the sensitivity of newer methods to detect mosaicism in DNA from blood …