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