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

Year of publication

2019

Authors

EuroEPINOMICS-RES Consortium; GRIN Consortium; Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha
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Organizations and authors

Helsinki University Hospital

Palotie Aarno

Lehesjoki Anna-Elina

Linnankivi Tarja

University of Helsinki

Palotie Aarno

Lehesjoki Anna-Elina

Linnankivi Tarja

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

American journal of human genetics

Parent publication name

American Journal of Human Genetics

Volume

104

Issue

6

Pages

1060-1072

ISSN

1537-6605

​Publication forum

50892

​Publication forum level

3

Open access

Open access in the publisher’s service

No

Open access of publication channel

Partially open publication channel

Self-archived

Yes

License of the self-archived publication

CC BY NC ND

Other information

Fields of science

Biomedicine; Neurosciences; Neurology and psychiatry

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

Yes

DOI

10.1016/j.ajhg.2019.04.001

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes