A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

Founder effects for childhood disorders occur in recessive conditions. We infer an ∼800-year-old founder for an autosomal dominant allele (SCN1B, c.363C>G) causing childhood-onset epilepsy in 14 families. Also present in 74  UK Biobank individuals, it may have escaped negative selection because of a mild phenotype and incomplete penetrance.

Source: The American Journal of Human Genetics - October 25, 2022 Category: Genetics & Stem Cells Authors: Bronwyn E. Grinton, Erandee Robertson, Liam G. Fearnley, Ingrid E. Scheffer, Anthony G. Marson, Terence J. O ’Brien, W. Owen Pickrell, Mark I. Rees, Sanjay M. Sisodiya, David J. Balding, Mark F. Bennett, Melanie Bahlo, Samuel F. Berkovic, Karen L. Olive Tags: Report Source Type: research