The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology

Previous studies suggested that severe epilepsies e.g., developmental and epileptic encephalopathies (DEE) are mainly caused by ultra-rare de novo genetic variants. For milder phenotypes, rare genetic variants could contribute to the phenotype. To determine the importance of rare variants for differ...

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Detalles Bibliográficos
Autores principales: Bundalian, Linnaeus, Su, Yin-Yuan, Chen, Siwei, Velluva, Akhil, Kirstein, Anna Sophia, Garten, Antje, Biskup, Saskia, Battke, Florian, Lal, Dennis, Heyne, Henrike O., Platzer, Konrad, Lin, Chen-Ching, Lemke, Johannes R., Le Duc, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041669/
https://www.ncbi.nlm.nih.gov/pubmed/36974069
http://dx.doi.org/10.1101/2023.01.17.23284702

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10041669/
https://www.ncbi.nlm.nih.gov/pubmed/36974069
http://dx.doi.org/10.1101/2023.01.17.23284702

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