A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

著者: Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A. Ellis, Nadja Hümpfer, Niklas Schwarz, Simone Seiffert, Joseph Peeden, Joseph Shen, Katalin Štěrbová, Trine Bjørg Hammer, Rikke S. Møller, Deepali N. Shinde, Sha Tang, Lacey Smith, Annapurna Poduri, Roland Krause, Felix Benninger, Katherine L. Helbig, Volker Haucke, Yvonne Weber, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Vladimı́r Komárek, Éric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Hiltrud Muhle, Deb K. Pal, Aarno Palotie, Felix Rosenow, Susanne Schubert‐Bast, Kaja Kristine Selmer, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Sarah Weckhuysen, Federico Zara, Paul Avillach, Anna Bartels, Sawona Biswas, Florence T. Bourgeois, Batsal Devkota, Tracy A. Glauser, Barbara Hallinan, Allison P. Heath, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Ian D. Krantz, In‐Hee Lee, Kenneth D. Mandl, Eric D. Marsh, Kristen L. Sund, Deanne Taylor, Peter S. White - The American Journal of Human Genetics 2019 被引用: 132