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Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal (1)H MRS brain metabolic profiles associated with cognitive function

PURPOSE: Progressive myoclonic epilepsy, type 1A (EPM1, Unverricht-Lundborg disease), is a rare neurodegenerative autosomal recessive disorder characterized by stimulus-sensitive and action myoclonus and tonic-clonic epileptic seizures. Patients develop neurological symptoms, including ataxia, inten...

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Detalles Bibliográficos
Autores principales: Hyppönen, Jelena, Paanila, Vili, Äikiä, Marja, Koskenkorva, Päivi, Könönen, Mervi, Vanninen, Ritva, Mervaala, Esa, Kälviäinen, Reetta, Hakumäki, Juhana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412857/
https://www.ncbi.nlm.nih.gov/pubmed/37541097
http://dx.doi.org/10.1016/j.nicl.2023.103459