Jörg Klepper

Summary

Affiliation: Medizinische Klinik II
Country: Germany

Publications

  1. ncbi request reprint GLUT1 deficiency syndrome--2007 update
    Joerg Klepper
    Children s Hospital, Aschaffenburg, Germany
    Dev Med Child Neurol 49:707-16. 2007
  2. doi request reprint Glucide metabolism disorders (excluding glycogen myopathies)
    Joerg Klepper
    Children s Hospital Aschaffenburg, Aschaffenburg, Germany Electronic address
    Handb Clin Neurol 113:1689-94. 2013
  3. doi request reprint GLUT1 deficiency syndrome in clinical practice
    Joerg Klepper
    Childrens Hospital Aschaffenburg, Am Hasenkopf, D 63739 Aschaffenburg, Germany
    Epilepsy Res 100:272-7. 2012
  4. ncbi request reprint GLUT1 deficiency with delayed myelination responding to ketogenic diet
    Jörg Klepper
    Children s Hospital Aschaffenburg, Aschaffenburg, Germany, and Department of Human Genetics, University Medical Center Nijmegen, The Netherlands
    Pediatr Neurol 37:130-3. 2007
  5. ncbi request reprint Expect the unexpected: favourable outcome in Munchausen by proxy syndrome
    Jörg Klepper
    Children s Hospital, Am Hasenkopf, 63739, Aschaffenburg, Germany
    Eur J Pediatr 167:1085-8. 2008
  6. 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
  7. ncbi request reprint Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
    Nat Genet 38:917-20. 2006
  8. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
  9. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007

Collaborators

Detail Information

Publications9

  1. ncbi request reprint GLUT1 deficiency syndrome--2007 update
    Joerg Klepper
    Children s Hospital, Aschaffenburg, Germany
    Dev Med Child Neurol 49:707-16. 2007
    ..This review summarizes data on 84 published cases and highlights recent advances in understanding this entity...
  2. doi request reprint Glucide metabolism disorders (excluding glycogen myopathies)
    Joerg Klepper
    Children s Hospital Aschaffenburg, Aschaffenburg, Germany Electronic address
    Handb Clin Neurol 113:1689-94. 2013
    ..Recently paroxysmal exertion-induced dyskinesia and stomatin-deficient cryohydrocytosis have been identified as an allelic disorder to GLUT1 deficiency equally responding to a ketogenic diet...
  3. doi request reprint GLUT1 deficiency syndrome in clinical practice
    Joerg Klepper
    Childrens Hospital Aschaffenburg, Am Hasenkopf, D 63739 Aschaffenburg, Germany
    Epilepsy Res 100:272-7. 2012
    ..The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments...
  4. ncbi request reprint GLUT1 deficiency with delayed myelination responding to ketogenic diet
    Jörg Klepper
    Children s Hospital Aschaffenburg, Aschaffenburg, Germany, and Department of Human Genetics, University Medical Center Nijmegen, The Netherlands
    Pediatr Neurol 37:130-3. 2007
    ..In patients without seizures, cranial magnetic resonance imaging and magnetic resonance spectroscopy may prove useful tools to monitor the response to a ketogenic diet...
  5. ncbi request reprint Expect the unexpected: favourable outcome in Munchausen by proxy syndrome
    Jörg Klepper
    Children s Hospital, Am Hasenkopf, 63739, Aschaffenburg, Germany
    Eur J Pediatr 167:1085-8. 2008
    ..The case highlights characteristic features of this entity and illustrates that a favourable outcome depends on early intervention with separation of the child and perpetrator, as well as concomitant long-term psychiatric treatment...
  6. 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
    ....
  7. ncbi request reprint Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
    Nat Genet 38:917-20. 2006
    ..Our findings suggest an unanticipated role for TREX1 in processing or clearing anomalous DNA structures, failure of which results in the triggering of an abnormal innate immune response...
  8. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
    ..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...
  9. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...