Article
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
American journal of medical genetics. Part A - 1 Dec 2024
Plante-Bordeneuve Pauline, Boussion Simon, Rama Mélanie, Brunelle Perrine, Thuillier Caroline, Vanlerberghe Clémence, Caumes Roseline, Colson Cindy, Ait-Yahya Emilie, Ghoumid Jamal, Smol Thomas
Abstract excerpt
Recent advances in the understanding of infantile developmental epileptic encephalopathies (IDEE) have revealed the association of biallelic pathogenic variants in UGDH. In this study, we report two novel combinations identified by exome sequencing: p.(Arg135Trp) with p.(Arg65*) and p.(Arg102Trp) with p.(Arg65*). Both combinations share a common pathogenic nonsense variant, with the missense variants...
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