Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner, José M. González, Barbara Uszczyńska-Ratajczak, Dmitri Davidovich Pervouchine, Stephen F. Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Fabienne Lepine, Electra Tapanari, , Adam Frankish
The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.
bioRxiv · May 30, 2019 · PreprintGenomics