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

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 bee...

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Bibliografische gegevens
Gepubliceerd in:Acta Neuropathol
Hoofdauteurs: Kobow, Katja, Jabari, Samir, Pieper, Tom, Kudernatsch, Manfred, Polster, Tilman, Woermann, Friedrich G., Kalbhenn, Thilo, Hamer, Hajo, Rössler, Karl, Mühlebner, Angelika, Spliet, Wim G. M., Feucht, Martha, Hou, Yanghao, Stichel, Damian, Korshunov, Andrey, Sahm, Felix, Coras, Roland, Blümcke, Ingmar, von Deimling, Andreas
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2020
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Original Paper
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7666281/
https://ncbi.nlm.nih.gov/pubmed/32979071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-020-02228-5
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