Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Charles A. Steward, Jolien Roovers, Marie Marthe Suner, Jose M. Gonzalez, Barbara Uszczynska-Ratajczak, Dmitri Pervouchine, Stephen Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Lepine, Electra Tapanari, Don Keiller, Stephen Abbs, Alba Sanchis-Juan, Detelina Grozeva, Anthony S. RogersMark Diekhans, Roderic Guigó, Robert Petryszak, Berge A. Minassian, Gianpiero Cavalleri, Dimitrios Vitsios, Slavé Petrovski, Jennifer Harrow, Paul Flicek, F. Lucy Raymond, Nicholas J. Lench, Peter De Jonghe, Jonathan M. Mudge, Sarah Weckhuysen, Sanjay M. Sisodiya, Adam Frankish

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Fingerprint

Dive into the research topics of 'Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A'. Together they form a unique fingerprint.

Medicine & Life Sciences