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Oligogenic inheritance in epilepsy: A systematic exome-wide analysis
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DOI：10.1002/epi.70397.png)
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Abstract
En 中文
Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance. Here, we investigated both monogenic and oligogenic inheritance in a large cohort of patients with epilepsy.
Keywords:
complex disease
digenic inheritance
gene combination
variant combination
whole exome sequencing
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