Targeted re-sequencing in malformations of cortical development: Genotype-phenotype correlations

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Malformations of cortical development (MCD) encompass a heterogeneous group of disorders related to the disruption of tightly regulated processes of cortex formation, due to various genetic, infectious, or vascular etiologies [1]. Clinical presentation and outcome in individuals with MCD are highly variable, including intellectual disability and refractory epilepsy at the most severe end of the spectrum [2,3]. The identification of underlying mechanisms is thus crucial for a more accurate prognosis, familial recurrence risk counselling, and better health management.

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