A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
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Published:2019-06
Issue:6
Volume:104
Page:1060-1072
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Helbig IngoORCID, 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
Funder
Children's Hospital of Philadelphia German Research Foundation European Science Foundation DFG Research Unit FOR2715 Luxembourg National Research Fund German Society for Epileptology Genomics Research and Innovation Network International League Against Epilepsy National Institutes of Health Israel Science Foundation Ruth L. Kirschstein National Research Service Award Faculty of Medicine Tübingen Ministry of Health Boston Children’s Hospital Translational Research Program
Subject
Genetics (clinical),Genetics
Cited by
79 articles.
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