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oapen-20.500.12657-556962022-06-01T03:49:42Z Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development De Vita, Dalila MCDs Epilepsy NGS fibroblasts metformin bic Book Industry Communication::M Medicine::MF Pre-clinical medicine: basic sciences::MFN Medical genetics Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs. 2022-05-31T10:37:44Z 2022-05-31T10:37:44Z 2021 book ONIX_20220531_9788855183444_980 2612-8020 9788855183444 9788855183437 9788855183451 https://library.oapen.org/handle/20.500.12657/55696 eng Premio Tesi di Dottorato application/pdf Attribution 4.0 International 9788855183444.pdf https://books.fupress.com/isbn/9788855183444 Firenze University Press 10.36253/978-88-5518-344-4 10.36253/978-88-5518-344-4 bf65d21a-78e5-4ba2-983a-dbfa90962870 9788855183444 9788855183437 9788855183451 88 66 Florence open access
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OAPEN
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DSpace
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| language |
English
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| description |
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
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| title |
9788855183444.pdf
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| spellingShingle |
9788855183444.pdf
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| title_short |
9788855183444.pdf
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| title_full |
9788855183444.pdf
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| title_fullStr |
9788855183444.pdf
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| title_full_unstemmed |
9788855183444.pdf
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| title_sort |
9788855183444.pdf
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| publisher |
Firenze University Press
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| publishDate |
2022
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| url |
https://books.fupress.com/isbn/9788855183444
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| _version_ |
1771297423379922944
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