Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy

Action myoclonus-renal failure syndrome (AMRF) is a rare, recessively inherited form of progressive myoclonus epilepsy (PME) caused by mutations in the SCARB2 gene and associated with end-stage renal failure. In addition to severe progressive myoclonus, the neurological manifestations of this syndro...

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Detalles Bibliográficos
Autores principales: Hotait, Mostafa, Dirani, Maya, El Halabi, Tarek, Beydoun, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744754/
https://www.ncbi.nlm.nih.gov/pubmed/33343627
http://dx.doi.org/10.3389/fgene.2020.581253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744754/
https://www.ncbi.nlm.nih.gov/pubmed/33343627
http://dx.doi.org/10.3389/fgene.2020.581253

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