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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666281/
https://www.ncbi.nlm.nih.gov/pubmed/32979071
http://dx.doi.org/10.1007/s00401-020-02228-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666281/
https://www.ncbi.nlm.nih.gov/pubmed/32979071
http://dx.doi.org/10.1007/s00401-020-02228-5

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