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Article

A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.

American journal of medical genetics. Part A - 1 Mar 2025

Magalie Lodin-Pasquier, Yline Capri, Olivier Patat, Blandine Dozières-Puyravel, Nathalie Couque

Abstract excerpt

The RUBCN gene encodes a widely expressed protein called Rubicon, the main function of which is to negatively regulate macroautophagy. A single homozygous pathogenic variant of the RUBCN gene has been reported to date in two unrelated consanguineous Saudi families with spinocerebellar ataxia autosomal recessive 15 (OMIM#613516). This variant is responsible for the deletion of the highly conserved Rubicon Homology...

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Identifiers

PMID: 39520129
DOI: 10.1002/ajmg.a.63937

Genes

RUBCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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