Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons
Steward, Charles A, Roovers, Jolien, Marie-Marthe Suner, Jose-Manuel Gonzalez, Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola Margarida, Samberger, Hannah, Hamdan, Fadi, Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Steve, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S, Wright, James, Choudhary, Jyoti, Deikhans, Mark, Guigo, Roderic, Petryszak, Robert, Minassian, Berge A, Cavalleri, Gianpiero, Vistios, Dimitrios, Petrovski, Slave, Harrow, Jennifer, Flicek, Paul, Raymond, F Lucy, Lench, Nick J, De Jonghe, Peter, Mudge, Jonathan M, Weckhuysen, Sarah, Sisodiya, Sanjay M, Frankish, Adam
Published in bioRxiv (30.05.2019)
Published in bioRxiv (30.05.2019)
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