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

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

Abstract 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 va...

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Main Authors: Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal
Format: Article
Language:English
Published: Nature Portfolio 2023-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-39539-6

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https://doi.org/10.1038/s41467-023-39539-6

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