SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Human molecular genetics

Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, …, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi

• DOI: 10.1093/hmg/ddx419
• PMID: 29211846
• PMCID: PMC5886107