A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy-Reference-Cited by-同舟云学术

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

Published:2019-06 Issue:6 Volume:104 Page:1060-1072
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Helbig Ingo^ORCID,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