Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

doi:10.1111/cge.13709

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Article

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.

Clinical genetics - 1 Apr 2020

Garret Philippine, Ebstein Frédéric, Delplancq Geoffroy, Dozieres-Puyravel Blandine, Boughalem Aïcha, Auvin Stéphane, Duffourd Yannis, Klafack Sandro, Zieba Barbara A, Mahmoudi Sana, Singh Karun K, Duplomb Laurence, Thauvin-Robinet Christel, Costa Jean-Marc, Krüger Elke, Trost Detlef, Verloes Alain, Faivre Laurence, Vitobello Antonio

Abstract excerpt

Heterozygous microdeletions of chromosome 15q13.3 (MIM: 612001) show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies. Rare patients carrying homozygous deletions show more severe phenotypes including epileptic encephalopathy, hypotonia and poor growth. For years, CHRNA7 (MIM: 118511), was...

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PMID: 31997314
DOI: 10.1111/cge.13709

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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