Genomes and Genes
Affiliation: Sahlgrenska University Hospital
- Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomesKalliopi Sofou
Department of Pediatrics, The Queen Silvia Children s Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden
J Inherit Metab Dis . 2017....
- A multicenter study on Leigh syndrome: disease course and predictors of survivalKalliopi Sofou
Department of Paediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, SE 416 85 Gothenburg, Sweden
Orphanet J Rare Dis 9:52. 2014..This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients...
- Mitochondrial disease: a challenge for the caregiver, the family, and societyKalliopi Sofou
Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, Gothenburg, Sweden
J Child Neurol 28:663-7. 2013....
- MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvementKalliopi Sofou
Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, SE 416 85 Gothenburg, Sweden
Mitochondrion 13:364-71. 2013....
- Phenotypic and genotypic variability in Alpers syndromeKalliopi Sofou
Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, S 416 85 Gothenburg, Sweden
Eur J Paediatr Neurol 16:379-89. 2012..Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1...
- Management of prolonged seizures and status epilepticus in childhood: a systematic reviewKalliopi Sofou
Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
J Child Neurol 24:918-26. 2009..Intranasal lorazepam is an effective, easy-to-use, and safe drug for prolonged seizures. Intravenous valproate exhibits favorable efficacy and safety profile as third-line in status epilepticus, refractory to diazepam and phenytoin...
- Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndromeKalliopi Sofou
Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital Gothenburg, Sweden
Mol Genet Genomic Med 3:59-68. 2015..836C>T, p.S279L) located in a conserved motif of unknown function in PARS2. This report links for the first time mutations in these genes to human disease in general and to Alpers syndrome in particular. ..
- Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1Kristoffer Björkman
Department of Pediatrics, University of Gothenburg, The Queen Silvia Children s Hospital, Gothenburg, Sweden Electronic address
Mitochondrion 21:33-40. 2015..A literature review was performed, showing that patients with mutations in NDUFS1 in general have a worse prognosis than patients with mutations in NDUFV1. ..
- Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-upRebecka Åkebrand
Institute of Neuroscience and Physiology Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
Acta Ophthalmol 94:609-17. 2016..To describe ophthalmological characteristics in children with Leigh syndrome (LS), an inherited, progressive, mitochondrial encephalomyopathy, at diagnosis and over time, and relate the results to causative genetic mutations...