Helbig, Ingo <br/><br/>
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.  [electronic resource] 

 -  American journal of human genetics  06 2019 
 - 1060-1072 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2019.04.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Protein Complex 2--genetics<br/>Adaptor Protein Complex mu Subunits--genetics<br/>Adolescent<br/>Animals<br/>Brain Diseases--etiology<br/>Child<br/>Child, Preschool<br/>Clathrin--genetics<br/>Endocytosis<br/>Epilepsy--etiology<br/>Female<br/>Humans<br/>Infant<br/>Mice<br/>Mice, Knockout<br/>Mutation, Missense<br/>Neurodevelopmental Disorders--etiology<br/>Exome Sequencing