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Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Year of publication

2021

Authors

Mazzola, Laure; Oliver, Karen L.; Labalme, Audrey; Baykan, Betul; Muona, Mikko; Joensuu, Tarja H.; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F.; Lehesjoki, Anna-Elina; Lesca, Gaetan
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Organizations and authors

University of Helsinki

Lehesjoki Anna-Elina

Courage Carolina

Joensuu Tarja H.

Helsinki University Hospital Catchment Area

Lehesjoki Anna-Elina

Courage Carolina

Joensuu Tarja H.

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

Parent publication name

Annals of Neurology

Volume

89

Issue

2

Pages

402-407

​Publication forum

51239

​Publication forum level

3

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

Self-archived

Yes

Other information

Fields of science

Neurosciences; Neurology and psychiatry

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

Yes

DOI

10.1002/ana.25941

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

Yes