Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy

Abstract The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical features with mutant heteroplasmy load (HL). We inv...

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Bibliographic Details
Main Authors: Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, Daniela Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valerio Carelli
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Annals of Clinical and Translational Neurology
Subjects:
epilepsy
maternally inherited Leigh's syndrome (MILS)
MT‐ATP6 MT‐ATP6
neuropathy, ataxia, retinitis pigmentosa (NARP)
progressive myoclonic epilepsy (PME)
Online Access:https://doi.org/10.1002/acn3.51259

Internet

https://doi.org/10.1002/acn3.51259

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