Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
Journal article published in 2020 by
Philippine Garret 
,
Frédéric Ebstein,
Geoffroy Delplancq ,
Blandine Dozieres‐Puyravel,
Aı̈cha Boughalem,
Stéphane Auvin,
Yannis Duffourd,
Sandro Klafack,
Barbara A. Zieba,
Karun K. Singh,
Sana Mahmoudi,
Laurence Duplomb ,
Christel Thauvin‐Robinet,
Jean‐Marc Costa,
Elke Krüger
and other authors.
,
Frédéric Ebstein,
Geoffroy Delplancq ,
Blandine Dozieres‐Puyravel,
Aı̈cha Boughalem,
Stéphane Auvin,
Yannis Duffourd,
Sandro Klafack,
Barbara A. Zieba,
Karun K. Singh,
Sana Mahmoudi,
Laurence Duplomb ,
Christel Thauvin‐Robinet,
Jean‐Marc Costa,
Elke Krüger
and other authors.
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