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

by Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter
Published in American journal of human genetics (06.06.2019)

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