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

Published 2019 View Full Article

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Title
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Authors
Keywords
clathrin-mediated endocytosis, developmental and epileptic encephalopathy, synaptic transmission, computational phenotypes, Human Phenotype Ontology, neurodevelopmental disorders
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2019-05-16
DOI
10.1016/j.ajhg.2019.04.001

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