Article

Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay

2020-07-16

Abstract excerpt

Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates with seizures. The molecular pathomechanisms underlying PMG development are not yet understood. About 40 genes have been associated with PMG, and small copy number variations have also been described in selected patients. We recently pr...

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Literature Corpus work: 49bf2d55-cb0b-5384-a77a-a4c6a6ff9b09
DOI: 10.1101/2020.07.16.206490

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Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delayDOI 10.1101/2020.07.16.206490Read

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