TY  - GEN
AU  - Helbig,Ingo
AU  - Lopez-Hernandez,Tania
AU  - Shor,Oded
AU  - Galer,Peter
AU  - Ganesan,Shiva
AU  - Pendziwiat,Manuela
AU  - Rademacher,Annika
AU  - Ellis,Colin A
AU  - Hümpfer,Nadja
AU  - Schwarz,Niklas
AU  - Seiffert,Simone
AU  - Peeden,Joseph
AU  - Shen,Joseph
AU  - Štěrbová,Katalin
AU  - Hammer,Trine Bjørg
AU  - Møller,Rikke S
AU  - Shinde,Deepali N
AU  - Tang,Sha
AU  - Smith,Lacey
AU  - Poduri,Annapurna
AU  - Krause,Roland
AU  - Benninger,Felix
AU  - Helbig,Katherine L
AU  - Haucke,Volker
AU  - Weber,Yvonne G
TI  - A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
SN  - 1537-6605
PY  - 2020///0311
KW  - Adaptor Protein Complex 2
KW  - genetics
KW  - Adaptor Protein Complex mu Subunits
KW  - Adolescent
KW  - Animals
KW  - Brain Diseases
KW  - etiology
KW  - Child
KW  - Child, Preschool
KW  - Clathrin
KW  - Endocytosis
KW  - Epilepsy
KW  - Female
KW  - Humans
KW  - Infant
KW  - Mice
KW  - Mice, Knockout
KW  - Mutation, Missense
KW  - Neurodevelopmental Disorders
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2019.04.001
ER  -