TY  -  
T1  - A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy 
SN  -  /  
UR  - http://hdl.handle.net/10138/337077 
T3  -  
A1  - EuroEPINOMICS-RES Consortium; GRIN Consortium; Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Lehesjoki, Anna-Elina; Linnankivi, Tarja; Palotie, Aarno 
A2  -  
PB  -  
Y1  - 2019 
LA  - eng 
AB  - The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology remains unknown in a significant proportion of individuals. To explore whether statistical support for genetic etiologies can be generated on the basis of phenotypic features, we analyzed whole-exome sequencing data and phenotypic similarities by using Human Phenotype Ontology (HPO) in 314 individuals with DEEs. We identified a de novo c.508C... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - DE-NOVO MUTATIONS; ILAE COMMISSION; POSITION PAPER; ADAPTER AP-2; PROTEIN; CLASSIFICATION; RECRUITMENT; BINDING; 3111 Biomedicine; 3112 Neurosciences; 3124 Neurology and psychiatry 
N1  -   
PP  -  
ER  -