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Article

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.

HGG advances - 10 Apr 2025

Carbonell Elizabeth, Stenton Sarah L, Ganesh Vijay S, Ma Jialan, VanNoy Grace E, Pais Lynn, Gaitanis John N, O'Leary Melanie C, Rehm Heidi L, O'Donnell-Luria Anne

Abstract excerpt

Bi-allelic variants in GLUL, encoding glutamine synthetase and responsible for the conversion of glutamate to glutamine, are associated with a severe recessive disease due to glutamine deficiency. A dominant disease mechanism was recently reported in nine females, all with a de novo single-nucleotide variant within the start codon or the 5' UTR of GLUL that truncates 17 amino acids of the protein product,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39985170
DOI: 10.1016/j.xhgg.2025.100419
PMCID: PMC11930682

Genes

GLUL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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