Article
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.
American journal of human genetics - 3 Nov 2022
Grinton Bronwyn E, Robertson Erandee, Fearnley Liam G, Scheffer Ingrid E, Marson Anthony G, O'Brien Terence J, Pickrell W Owen, Rees Mark I, Sisodiya Sanjay M, Balding David J, Bennett Mark F, Bahlo Melanie, Berkovic Samuel F, Oliver Karen L
Abstract excerpt
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndrome characterized by distinctive phenotypic heterogeneity within families. The SCN1B c.363C>G (p.Cys121Trp) variant has been identified in independent, multi-generational families with GEFS+. Although the variant is present in population databases (at very low frequency), there is strong clinical, genetic, and...
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