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

Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, 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, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, 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, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter

dc.contributor.author	Schwarz, Niklas
dc.contributor.author	Seiffert, Simone
dc.contributor.author	Weber, Yvonne G.
dc.date.accessioned	2020-03-20T12:42:09Z
dc.date.available	2020-03-20T12:42:09Z
dc.date.issued	2019
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/99239
dc.language.iso	en	en
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2019.04.001	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20190926111821_00996
utue.publikation.seiten	1060-1072	de_DE
utue.personen.roh	Helbig, Ingo
utue.personen.roh	Lopez-Hernandez, Tania
utue.personen.roh	Shor, Oded
utue.personen.roh	Galer, Peter
utue.personen.roh	Ganesan, Shiva
utue.personen.roh	Pendziwiat, Manuela
utue.personen.roh	Rademacher, Annika
utue.personen.roh	Ellis, Colin A.
utue.personen.roh	Huempfer, Nadja
utue.personen.roh	Schwarz, Niklas
utue.personen.roh	Seiffert, Simone
utue.personen.roh	Peeden, Joseph
utue.personen.roh	Shen, Joseph
utue.personen.roh	Sterbova, Katalin
utue.personen.roh	Hammer, Trine Bjorg
utue.personen.roh	Moller, Rikke S.
utue.personen.roh	Shinde, Deepali N.
utue.personen.roh	Tang, Sha
utue.personen.roh	Smith, Lacey
utue.personen.roh	Poduri, Annapurna
utue.personen.roh	Krause, Roland
utue.personen.roh	Benninger, Felix
utue.personen.roh	Helbig, Katherine L.
utue.personen.roh	Haucke, Volker
utue.personen.roh	Weber, Yvonne G.
utue.personen.roh	Balling, Rudi
utue.personen.roh	Barisic, Nina
utue.personen.roh	Baulac, Stephanie
utue.personen.roh	Caglayan, Hande
utue.personen.roh	Craiu, Dana
utue.personen.roh	De Jonghe, Peter
utue.personen.roh	Depienne, Christel
utue.personen.roh	Guerrini, Renzo
utue.personen.roh	Hjalgrim, Helle
utue.personen.roh	Hoffman-Zacharska, Dorota
utue.personen.roh	Jahn, Johanna
utue.personen.roh	Klein, Karl Martin
utue.personen.roh	Koeleman, Bobby P. C.
utue.personen.roh	Komarek, Vladimir
utue.personen.roh	Leguern, Eric
utue.personen.roh	Lehesjoki, Anna-Elina
utue.personen.roh	Lemke, Johannes R.
utue.personen.roh	Lerche, Holger
utue.personen.roh	Linnan-Kivi, Tarja
utue.personen.roh	Marini, Carla
utue.personen.roh	May, Patrick
utue.personen.roh	Muhle, Hiltrud
utue.personen.roh	Pal, Deb K.
utue.personen.roh	Palotie, Aarno
utue.personen.roh	Rosenow, Felix
utue.personen.roh	Schubert-Bast, Susanne
utue.personen.roh	Selmer, Kaja
utue.personen.roh	Serratosa, Jose M.
utue.personen.roh	Sisodiya, Sanjay
utue.personen.roh	Stephani, Ulrich
utue.personen.roh	Striano, Pasquale
utue.personen.roh	Suls, Arvid
utue.personen.roh	Talvik, Tiina
utue.personen.roh	von Spiczak, Sarah
utue.personen.roh	Weckhuysen, Sarah
utue.personen.roh	Zara, Federico
utue.personen.roh	Avillach, Paul
utue.personen.roh	Bartels, Anna
utue.personen.roh	Biswas, Sawona
utue.personen.roh	Bourgeois, Florence
utue.personen.roh	Devkota, Batsal
utue.personen.roh	Glauser, Tracy
utue.personen.roh	Hallinan, Barbara
utue.personen.roh	Heath, Allison
utue.personen.roh	Hirschhorn, Joel
utue.personen.roh	Kilbourn, Judson
utue.personen.roh	Kong, SekWon
utue.personen.roh	Krantz, Ian
utue.personen.roh	Lee, In-Hee
utue.personen.roh	Mandl, Kenneth D.
utue.personen.roh	Marsh, Eric
utue.personen.roh	Sund, Kristen
utue.personen.roh	Taylor, Deanne
utue.personen.roh	White, Peter
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	104	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE