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

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

Autor(en):

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

Tübinger Autor(en):

Schwarz, Niklas
Seiffert, Simone
Weber, Yvonne G.

Erschienen in:

American Journal of Human Genetics (2019), Bd. 104, H. 6, S. 1060-1072

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2019.04.001

ISSN:

1537-6605