Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated e...

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Detalles Bibliográficos
Autores principales: Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Helbig, Ingo, Leu, Costin, Lal, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359300/
https://www.ncbi.nlm.nih.gov/pubmed/37474567
http://dx.doi.org/10.1038/s41467-023-39539-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359300/
https://www.ncbi.nlm.nih.gov/pubmed/37474567
http://dx.doi.org/10.1038/s41467-023-39539-6

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