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Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development

4 Aug 2024

Abstract excerpt

Focal cortical dysplasia, hemimegalencephaly and cortical tubers are paediatric epileptogenic malformations of cortical development (MCDs) frequently pharmacoresistant and mostly treated surgically by the resection of epileptic cortex. Availability of cortical resection samples has allowed significant mechanistic discoveries directly from human material. Causal brain somatic or germline mutations in the...

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PMID: 39106285
DOI: 10.1093/brain/awae262

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