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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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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 |