Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy

Abstract The GLUL gene encodes glutamine synthetase (GS), which plays a crucial role in glutamine–glutamate homeostasis. Both loss-of-function and gain-of-function variants of GLUL are known to cause genetic disorders in humans. Biallelic loss-of-function variants cause congenital glutamine deficien...

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Principais autores:	Dong Eon Oh, Se Song Jang, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Seungbok Lee, Jong-Hee Chae
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2025-10-01
coleção:	Scientific Reports
Assuntos:	GLUL Glutamine synthetase Start-loss N-terminal degron Epilepsy Developmental delay
Acesso em linha:	https://doi.org/10.1038/s41598-025-19666-4
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