Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date to investigate rare variants that confer risk for a spectrum of epilepsy syndromes. With an unprecedented sample size o...

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Detalles Bibliográficos
Autores principales: Chen, Siwei, Neale, Benjamin M., Berkovic, Samuel F.
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/PMC9980234/
https://www.ncbi.nlm.nih.gov/pubmed/36865150
http://dx.doi.org/10.1101/2023.02.22.23286310

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980234/
https://www.ncbi.nlm.nih.gov/pubmed/36865150
http://dx.doi.org/10.1101/2023.02.22.23286310

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