Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Raggio V, Graña M, Winiarski E, Mansilla S, Simoes C, Rodríguez S, Brandes M, Tapié A, Rodríguez L, Cibils L, Alonso M, Martínez J, Fernández-Calero T, Domínguez F, Mezquida MR, Castro L, Cerisola A, Naya H, Cassina A, Quijano C, Spangenberg L.
Raggio V, et al. Among authors: mansilla s.
Hum Genomics. 2023 Feb 27;17(1):14. doi: 10.1186/s40246-023-00463-x.
Hum Genomics. 2023.
PMID: 36849973
Free PMC article.