MOSAICISM IN FOCAL CORTICAL DYSPLASIAS SPECTRUM SEEN IN NEUROPSYCHIATRIC DISEASE

syn21895556

Created By Mette Peters Mette

title: Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
abstract: The goal of this project is to extend the discovery of mosaicism in patients with epilepsy and autism in which neurohistopathological evidence points to FCD, by sequencing dysplasias compared with adjacent normal tissue and/or blood at the DNA and RNA level at the single-cell level. We aim to uncover key sets of genes, in which specific de novo mutations,in specific locations, at specific mosaicism levels, is sufficient to produce clinically defined disease.
grantNumber: U01MH108898
institution: Rockefeller University
institutions: Rockefeller University
projectTitle: Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric disease
ndaCollection: [2968]( https://nda.nih.gov/edit_collection.html?id=2968)
primaryInvestigator: Joseph Gleeson
primaryInvestigators: Joseph Gleeson

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