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Article

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE

20 Sept 2023

Abstract excerpt

De novo somatic (post-zygotic) gene mutations affecting neuroglial progenitor cell types in embryonic cerebral cortex are increasingly identified in patients with drug resistant epilepsy (DRE) associated with malformations of cortical development, in particular, focal cortical dysplasias (FCD). Somatic variants in at least 16 genes have been linked to FCD type II, all encoding components of the mechanistic target...

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Identifiers

PMID: 37739137
DOI: 10.1016/j.nbd.2023.106299

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