Jörg Klepper

Summary

Affiliation: University of Essen
Country: Germany

Publications

  1. ncbi request reprint Autosomal dominant transmission of GLUT1 deficiency
    J Klepper
    University of Essen, Department of Pediatric Neurology, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 10:63-8. 2001
  2. ncbi request reprint Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome
    Jörg Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
    Curr Opin Neurol 17:193-6. 2004
  3. ncbi request reprint Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
    Jörg Klepper
    Department of Pediatric Neurology, University of Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Prostaglandins Leukot Essent Fatty Acids 70:321-7. 2004
  4. ncbi request reprint Bench meets bedside: a 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1
    Jörg Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Biochemistry 44:12621-6. 2005
  5. ncbi request reprint Progressive dystonia in a 12-year-old boy
    Jörg Klepper
    Department of Paediatrics and Paediatric Neurology, University of Essen, Germany
    Eur J Paediatr Neurol 7:85-8. 2003
  6. ncbi request reprint Introduction of a ketogenic diet in young infants
    J Klepper
    Department of Pediatric Neurology, University of Essen, Essen, Germany
    J Inherit Metab Dis 25:449-60. 2002
  7. ncbi request reprint Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
    Jörg Klepper
    Department of Pediatric Neurology, University of Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Pediatr 162:84-9. 2003
  8. ncbi request reprint Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively
    J Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
    Neuropediatrics 36:302-8. 2005
  9. ncbi request reprint Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review
    Jörg Klepper
    University Children s Hospital, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Pediatr 161:295-304. 2002
  10. ncbi request reprint Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
    J Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Germany
    FEBS Lett 498:104-9. 2001

Collaborators

Detail Information

Publications14

  1. ncbi request reprint Autosomal dominant transmission of GLUT1 deficiency
    J Klepper
    University of Essen, Department of Pediatric Neurology, Hufelandstrasse 55, D 45122 Essen, Germany
    Hum Mol Genet 10:63-8. 2001
    ....
  2. ncbi request reprint Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome
    Jörg Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
    Curr Opin Neurol 17:193-6. 2004
    ..Current understanding of this novel disorder is reviewed, and recent advances in diagnosis and treatment are highlighted...
  3. ncbi request reprint Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome
    Jörg Klepper
    Department of Pediatric Neurology, University of Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Prostaglandins Leukot Essent Fatty Acids 70:321-7. 2004
    ..The effects of ketosis on the concentrations of glucose, lactate, ketones, and fatty acids in blood and cerebrospinal fluid in this entity are discussed in view of previous data on ketosis in man...
  4. ncbi request reprint Bench meets bedside: a 10-year-old girl and amino acid residue glycine 75 of the facilitative glucose transporter GLUT1
    Jörg Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Biochemistry 44:12621-6. 2005
    ..This case illustrates a GLUT1 mutation characterized in vitro and later confirmed by disease itself and highlights the potential of basic science and clinical medicine to collaborate for the benefit of patients...
  5. ncbi request reprint Progressive dystonia in a 12-year-old boy
    Jörg Klepper
    Department of Paediatrics and Paediatric Neurology, University of Essen, Germany
    Eur J Paediatr Neurol 7:85-8. 2003
    ..The newly described defect of the pantothenate kinase enzyme enables a novel therapeutic approach to be considered, based on the mutation analyses of the PANK2 gene, as well as the prenatal diagnosis of this disorder...
  6. ncbi request reprint Introduction of a ketogenic diet in young infants
    J Klepper
    Department of Pediatric Neurology, University of Essen, Essen, Germany
    J Inherit Metab Dis 25:449-60. 2002
    ..Seizure control was effective and adverse effects were limited, but evaluation of the long-term effects of the ketogenic diet in this age group must await ongoing studies...
  7. ncbi request reprint Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
    Jörg Klepper
    Department of Pediatric Neurology, University of Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Pediatr 162:84-9. 2003
    ..In contrast, no inhibitory effects were observed for carbamazepine and phenytoin, indicating that these substances might be preferable for additional seizure control in this disorder...
  8. ncbi request reprint Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively
    J Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
    Neuropediatrics 36:302-8. 2005
    ..A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism...
  9. ncbi request reprint Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review
    Jörg Klepper
    University Children s Hospital, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Pediatr 161:295-304. 2002
    ..Several heterozygous mutations resulting in GLUT1 haploinsufficiency have been identified. An effective treatment is available by means of a ketogenic diet as ketone bodies serve as an alternative fuel for the developing brain...
  10. ncbi request reprint Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
    J Klepper
    Department of Pediatrics and Pediatric Neurology, University of Essen, Germany
    FEBS Lett 498:104-9. 2001
    ..The data agree with 3-O-methyl-glucose uptake into patient erythrocytes and indicate that the loss of glycine rather than a hydrophilic side chain (Gly91Asp) defines the functional consequences of this mutation...
  11. ncbi request reprint [The ketogenic diet in German-speaking countries: update 2003]
    J Klepper
    Universitäts Kinderklinik Essen
    Klin Padiatr 216:277-85. 2004
    ..Recent studies have once again confirmed the efficiacy of the diet, but the diet is hardly known in Europe and has never been quite accepted as an effective treatment of childhood epilepsy...
  12. ncbi request reprint Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
    Jörg Klepper
    Department of Pediatric Neurology, University of Essen, Essen, Germany
    Pediatr Neurol 29:321-5. 2003
    ..Though no treatment is required, clinical follow-up and repeated lumbar punctures are necessary to distinguish this benign condition from the original GLUT1 deficiency syndrome...
  13. ncbi request reprint Repeated detection of gas in the portal vein after liver transplantation: A sign of EBV-associated post-transplant lymphoproliferation?
    Michael A Wallot
    Department of Pediatrics, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Pediatr Transplant 6:332-6. 2002
    ..We suggest that the detection of portal vein gas in pediatric liver transplant recipients beyond the early post-operative period may be a sign of intra-abdominal post-transplant lymphoproliferative disease...
  14. doi request reprint Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet
    Jörg Klepper
    Department of Pediatrics and Pediatric Neurology, Klinikum Aschaffenburg, Aschaffenburg, Germany
    Epilepsia 49:46-9. 2008
    ....