Kalliopi Sofou

Summary

Affiliation: Sahlgrenska University Hospital
Country: Sweden

Publications

  1. doi Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
    Kalliopi Sofou
    Department of Pediatrics, The Queen Silvia Children s Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden
    J Inherit Metab Dis . 2017
  2. pmc A multicenter study on Leigh syndrome: disease course and predictors of survival
    Kalliopi 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
  3. doi Mitochondrial disease: a challenge for the caregiver, the family, and society
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, Gothenburg, Sweden
    J Child Neurol 28:663-7. 2013
  4. doi MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, SE 416 85 Gothenburg, Sweden
    Mitochondrion 13:364-71. 2013
  5. doi Phenotypic and genotypic variability in Alpers syndrome
    Kalliopi 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
  6. doi Management of prolonged seizures and status epilepticus in childhood: a systematic review
    Kalliopi Sofou
    Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
    J Child Neurol 24:918-26. 2009
  7. pmc Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital Gothenburg, Sweden
    Mol Genet Genomic Med 3:59-68. 2015
  8. doi Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
    Kristoffer Björkman
    Department of Pediatrics, University of Gothenburg, The Queen Silvia Children s Hospital, Gothenburg, Sweden Electronic address
    Mitochondrion 21:33-40. 2015
  9. doi Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up
    Rebecka Åkebrand
    Institute of Neuroscience and Physiology Ophthalmology, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
    Acta Ophthalmol 94:609-17. 2016

Collaborators

Detail Information

Publications9

  1. doi Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
    Kalliopi Sofou
    Department of Pediatrics, The Queen Silvia Children s Hospital, University of Gothenburg, Smörslottsgatan 1, 41685, Gothenburg, Sweden
    J Inherit Metab Dis . 2017
    ....
  2. pmc A multicenter study on Leigh syndrome: disease course and predictors of survival
    Kalliopi 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...
  3. doi Mitochondrial disease: a challenge for the caregiver, the family, and society
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, Gothenburg, Sweden
    J Child Neurol 28:663-7. 2013
    ....
  4. doi MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement
    Kalliopi Sofou
    Department of Pediatrics, University of Gothenburg, The Queen Silvia s Children Hospital, SE 416 85 Gothenburg, Sweden
    Mitochondrion 13:364-71. 2013
    ....
  5. doi Phenotypic and genotypic variability in Alpers syndrome
    Kalliopi 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...
  6. doi Management of prolonged seizures and status epilepticus in childhood: a systematic review
    Kalliopi 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...
  7. pmc Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
    Kalliopi 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. ..
  8. doi Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
    Kristoffer 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. ..
  9. doi Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up
    Rebecka 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...