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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

23 Aug 2019

Abstract excerpt

Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe pediatric refractory epilepsies subjected to neurosurgery. FCD2 are characterized by neuropathological hallmarks that include enlarged dysmorphic neurons (DNs) and balloon cells (BCs). Here, we provide a comprehensive assessment of the...

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PMID: 31444548
DOI: 10.1007/s00401-019-02061-5

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