Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

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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

Organizations and authors

University of Helsinki

Lehesjoki Anna-Elina Orcid -palvelun logo

Courage Carolina

Joensuu Tarja H.

Helsinki University Hospital Catchment Area

Lehesjoki Anna-Elina Orcid -palvelun logo

Courage Carolina

Joensuu Tarja H.

Publication type

Publication format

Article

Parent publication type

Journal

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article –refereed

Publication channel information

Parent publication name

Annals of Neurology

Volume

89

Issue

2

Pages

402-407

​Publication forum

51239

Other information

Fields of science

Neurosciences; Neurology and psychiatry

Open access

Yes

Publication country

United States, USA

Language

English

International co-publication

Yes

Co-publication with a company

Yes