Affiliation: Medizinische Klinik II
- GLUT1 deficiency syndrome--2007 updateJoerg 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...
- 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...
- GLUT1 deficiency syndrome in clinical practiceJoerg 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...
- GLUT1 deficiency with delayed myelination responding to ketogenic dietJörg 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...
- Expect the unexpected: favourable outcome in Munchausen by proxy syndromeJörg 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...
- Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic dietJörg Klepper
Department of Pediatrics and Pediatric Neurology, Klinikum Aschaffenburg, Aschaffenburg, Germany
Epilepsia 49:46-9. 2008....
- Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick 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...
- Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick 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...
- Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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...