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Article

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Human mutation - 1 Jul 2018

Mignon-Ravix Cécile, Milh Mathieu, Kaiser Charlotte Sophia, Daniel Jens, Riccardi Florence, Cacciagli Pierre, Nagara Majdi, Busa Tiffany, Liebau Eva, Villard Laurent

Abstract excerpt

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his parents. In the proband, we identified a homozygous missense variant in the ubiquitin-like modifier activating enzyme 5 (UBA5) gene, encoding a protein involved in post-translational modifications. Functional analysis of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29663568
DOI: 10.1002/humu.23534

Genes

UBA5
UFM1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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