Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
- Resource Type
- Journal
- Authors
- Garret, Philippine; Ebstein, Frederic; Delplancq, Geoffroy; Dozieres-Puyravel, Blandine; Boughalem, Aicha; Auvin, Stephane; Duffourd, Yannis; Klafack, Sandro; Zieba, Barbara A.; Mahmoudi, Sana; Singh, Karun K.; Duplomb, Laurence; Thauvin-Robinet, Christel; Costa, Jean-Marc; Krueger, Elke; Trost, Detlef; Verloes, Alain; Faivre, Laurence; Vitobello, Antonio
- Source
- CLINICAL GENETICS; APR 2020, 97 4, p567-p575, 9p.
- Subject
- Language
- English
- ISSN
- 13990004