Cargando…

Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar–Thalamic–Cortical Loop

Familial adult myoclonus Epilepsy (FAME) is a non-coding repeat expansion disorder that has been reported under different acronyms and initially linked to four main loci: FAME1 (8q23.3–q24.1), FAME 2 (2p11.1–q12.1), FAME3 (5p15.31–p15.1), and FAME4 (3q26.32–3q28). To date, it is known that the genet...

Descripción completa

Detalles Bibliográficos
Autores principales: Cuccurullo, Claudia, Striano, Pasquale, Coppola, Antonietta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297251/
https://www.ncbi.nlm.nih.gov/pubmed/37371086
http://dx.doi.org/10.3390/cells12121617