Article
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2021
Klöckner Chiara, Sticht Heinrich, Zacher Pia, Popp Bernt, Babcock Holly E, Bakker Dewi P, Barwick Katy, Bonfert Michaela V, Bönnemann Carsten G, Brilstra Eva H, Chung Wendy K, Clarke Angus J, Devine Patrick, Donkervoort Sandra, Fraser Jamie L, Friedman Jennifer, Gates Alyssa, Ghoumid Jamal, Hobson Emma, Horvath Gabriella, Keller-Ramey Jennifer, Keren Boris, Kurian Manju A, Lee Virgina, Leppig Kathleen A, Lundgren Johan, McDonald Marie T, McLaughlin Heather M, McTague Amy, Mefford Heather C, Mignot Cyril, Mikati Mohamad A, Nava Caroline, Raymond F Lucy, Sampson Julian R, Sanchis-Juan Alba, Shashi Vandana, Shieh Joseph T C, Shinawi Marwan, Slavotinek Anne, Stödberg Tommy, Stong Nicholas, Sullivan Jennifer A, Taylor Ashley C, Toler Tomi L, van den Boogaard Marie-José, van der Crabben Saskia N, van Gassen Koen L I, van Jaarsveld Richard H, Van Ziffle Jessica, Wadley Alexandrea F, Wagner Matias, Wigby Kristen, Wortmann Saskia B, Zarate Yuri A, Møller Rikke S, Lemke Johannes R, Platzer Konrad
Abstract excerpt
PURPOSE: This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals. METHODS: Individuals harboring heterozygous missense or loss-of-function variants in SNAP25 were assembled through collaboration with international colleagues, matchmaking...
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