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| http://purl.uniprot.org/citations/30489685 | http://www.w3.org/2000/01/rdf-schema#comment | "Constitutional mutations in Leucine-rich glioma inactivated 1 (LGI1) predispose to an autosomal dominant epilepsy syndrome in humans and germline inactivation of LGI1 in mice leads to early onset seizures. LGI1 is highly expressed in the regions involved in neuronal stem cell generation and migration and detailed analysis of the brains in these mice reveals a subtle cortical dysplasia characterized by hypercellularity in the outer cortical layers. To investigate the cellular origin for this cortical dysplasia, we created mice that allow cell-specific, conditional inactivation of LGI1. Exons 3-4, which contain critical motifs for LGI1 function, were targeted for deletion and, using a CMV-cre mouse strain, global inactivation of LGI1 led to early onset seizures and the same cortical dysplasia seen in the constitutionally null mice. Similarly, inactivation of LGI1 in cells expressing Nestin, expressed primarily in neuronal precursor cells, led to early onset seizures and cortical dysplasia. In contrast, targeting inactivation of LGI1 in cells expressing Gfap, Camk2a, and parvalbumin, did not lead to cortical dysplasia. This strain of mouse, therefore, allows for a more refined investigation of the cell types involved in the cortical dysplasia seen following inactivation of LGI1 and potentially a better understanding of the molecular mechanisms behind LGI1-induced epilepsy."xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.org/dc/terms/identifier | "doi:10.1002/dvg.23268"xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/author | "Qin H."xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/author | "Cowell J.K."xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/author | "Silva J."xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/name | "Genesis"xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/pages | "e23268"xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/title | "Selective inactivation of LGI1 in neuronal precursor cells leads to cortical dysplasia in mice."xsd:string |
| http://purl.uniprot.org/citations/30489685 | http://purl.uniprot.org/core/volume | "57"xsd:string |
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