Article
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
American journal of human genetics - 6 Jul 2023
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
Abstract excerpt
Previous studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainly caused by ultra-rare de novo genetic variants. For milder disease, rare genetic variants could contribute to the phenotype. To determine the importance of rare variants for different epilepsy types, we analyzed a whole-exome sequencing cohort of 9,170 epilepsy-affected individuals and 8,436...
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