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

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 investigated...

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Detalles Bibliográficos
Autores principales: Licchetta, Laura, Ferri, Lorenzo, La Morgia, Chiara, Zenesini, Corrado, Caporali, Leonardo, Lucia Valentino, Maria, Minardi, Raffaella, Fulitano, Daniela, Di Vito, Lidia, Mostacci, Barbara, Alvisi, Lara, Avoni, Patrizia, Liguori, Rocco, Tinuper, Paolo, Bisulli, Francesca, Carelli, Valerio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951109/
https://www.ncbi.nlm.nih.gov/pubmed/33476484
http://dx.doi.org/10.1002/acn3.51259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951109/
https://www.ncbi.nlm.nih.gov/pubmed/33476484
http://dx.doi.org/10.1002/acn3.51259

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