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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Publicat a:Acta Neuropathol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Original Paper
Accés en línia: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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