Article
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Brain : a journal of neurology - 1 Sept 2023
Martins Custodio Helena, Clayton Lisa M, Bellampalli Ravishankara, Pagni Susanna, Silvennoinen Katri, Caswell Richard, Brunklaus Andreas, Guerrini Renzo, Koeleman Bobby P C, Lemke Johannes R, Møller Rikke S, Scheffer Ingrid E, Weckhuysen Sarah, Zara Federico, Zuberi Sameer, Kuchenbaecker Karoline, Balestrini Simona, Mills James D, Sisodiya Sanjay M
Abstract excerpt
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its marked phenotypic heterogeneity is incompletely explained by differences in the causal SCN1A variant or clinical factors. In 34 adults with SCN1A-related Dravet syndrome, we show additional genomic variation beyond SCN1A contributes to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.