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 investig...

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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2021-03-01
coleção:	Annals of Clinical and Translational Neurology
Assuntos:	epilepsy maternally inherited Leigh's syndrome (MILS) MT‐ATP6 MT‐ATP6 neuropathy, ataxia, retinitis pigmentosa (NARP) progressive myoclonic epilepsy (PME)
Acesso em linha:	https://doi.org/10.1002/acn3.51259
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