Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin

IntroductionProgressive myoclonic epilepsies (PME) are rare genetic disorders typically presenting with myoclonus, seizures, and cognitive decline. While several genes are associated with PME, the NUS1 gene has recently emerged as a potential cause. We report the case of a 41-year-old woman who pres...

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Principais autores:	Cristina Sau, Sergi López-Rodríguez, Mercè Falip, Anna Esteve-Garcia, Jacint Sala-Padró, Cinthia Aguilera, Alba Navarro-Romero, Amaia Lasa-Aranzasti, Laura Rodríguez-Bel, Guillermo Hernández-Pérez
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2025-12-01
coleção:	Frontiers in Genetics
Assuntos:	NUS1 progressive myoclonic epilepsy whole exome sequencing NUS1-related disorders psychiatric manifestations metformin
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1665623/full
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