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

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

Summary: 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-...

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Bibliographic Details
Main Authors: Elizabeth Carbonell, Sarah L. Stenton, Vijay S. Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais, John N. Gaitanis, Melanie C. O’Leary, Heidi L. Rehm, Anne O’Donnell-Luria
Format: Article
Language:English
Published: Elsevier 2025-04-01
Series:HGG Advances
Subjects:
GLUL
glutamine synthetase
de novo
start-loss
start codon
5'UTR
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000223

Internet

http://www.sciencedirect.com/science/article/pii/S2666247725000223

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