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- W3030832011 abstract "Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex. Clinical manifestations of PMG mainly include epilepsy seizure, growth retardation, mental retardation, and cerebral palsy. Clinical diagnosis mainly depends on the finding of magnetic resonance imaging (MRI). In recent years, with the application of a new generation of sequencing technology, much progress has been made in terms of understanding of the genetic pathogenesis of PMG, especially the gene mutation of Tubulin gene family. This review summarizes the recent developments in the classification, clinical and imaging features, and etiologies, specifically focusing on how genetic advances are changing our understanding of PMG.Key words: Polymicrogyria; Gene mutation; Tubulin gene; Malformation of cortical development" @default.
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- W3030832011 date "2016-08-15" @default.
- W3030832011 modified "2023-09-25" @default.
- W3030832011 title "Recent advance in molecular genetics of polymicrogyria malformation" @default.
- W3030832011 doi "https://doi.org/10.3760/cma.j.issn.1671-8925.2016.08.020" @default.
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