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Focal cortical dysplasia: A genotype–phenotype analysis of polymorphisms and mutations in the TSC genes

Purpose:  Focal cortical dysplasia (FCD) is a common cause of pharmacoresistant human epilepsy. FCD has frequently been discussed as a “forme fruste” of tuberous sclerosis complex (TSC) because of the radiologic and histologic resemblance of dysplastic areas to tubers in TSC. Mutations or a germ‐line predisposition in terms of increased polymorphisms in the TSC genes have been presumed to influence the pathogenesis of FCD. A detailed genotype–phenotype analysis of these patients has not been performed so far.