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Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

24 Jul 2023

Abstract excerpt

Importance: Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or as part of syndromic diseases. Past studies of polymicrogyria have defined heterogeneous genetic and nongenetic causes but have explained only a small...

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PMID: 37486637
DOI: 10.1001/jamaneurol.2023.2363

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