P Huppke

Summary

Country: Germany

Publications

  1. doi request reprint Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, University Medical Center, Georg August University Gottingen, Germany
    Mult Scler 19:941-6. 2013
  2. pmc Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Gottingen, Germany
    Hum Mutat 33:1207-15. 2012
  3. pmc Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    Am J Hum Genet 90:61-8. 2012
  4. pmc Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
    Cornelia Brendel
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    J Mol Med (Berl) 89:389-98. 2011
  5. ncbi request reprint Two brothers with Hennekam syndrome and cerebral abnormalities
    P Huppke
    Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Georg August Universitat Gottingen, Germany
    Clin Dysmorphol 9:21-4. 2000
  6. ncbi request reprint Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    Am J Med Genet A 137:136-8. 2005
  7. ncbi request reprint Molecular diagnosis of Rett syndrome
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    J Child Neurol 20:732-6. 2005
  8. pmc Very mild cases of Rett syndrome with skewed X inactivation
    P Huppke
    Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    J Med Genet 43:814-6. 2006
  9. ncbi request reprint Treatment of epilepsy in Rett syndrome
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    Eur J Paediatr Neurol 11:10-6. 2007
  10. doi request reprint Immunoglobulin therapy in idiopathic hypothalamic dysfunction
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Strasse 40, Göttingen D 37075, Germany
    Pediatr Neurol 41:232-4. 2009

Detail Information

Publications32

  1. doi request reprint Acute disseminated encephalomyelitis followed by recurrent or monophasic optic neuritis in pediatric patients
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, University Medical Center, Georg August University Gottingen, Germany
    Mult Scler 19:941-6. 2013
    ..Some pediatric patients with inflammatory demyelinating central nervous system disorders cannot be classified under any of the established disease entities, making their treatment and prognosis difficult...
  2. pmc Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Gottingen, Germany
    Hum Mutat 33:1207-15. 2012
    ..As a result, this mutation causes reduced SOD1 activity and may impair other mechanisms important for normal Cu homeostasis. CCS-Arg163Trp represents the primary example of a human mutation in a gene coding for a Cu chaperone...
  3. pmc Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    Am J Hum Genet 90:61-8. 2012
    ..Furthermore, AT-1 defects are a new and important differential diagnosis in patients with low copper and ceruloplasmin in serum...
  4. pmc Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
    Cornelia Brendel
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    J Mol Med (Berl) 89:389-98. 2011
    ..NB54 and NB84 were more effective than gentamicin and are therefore promising candidates for readthrough therapy in Rett syndrome patients...
  5. ncbi request reprint Two brothers with Hennekam syndrome and cerebral abnormalities
    P Huppke
    Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Georg August Universitat Gottingen, Germany
    Clin Dysmorphol 9:21-4. 2000
    ..Cerebral MRI in our two cases revealed small subcortical hyperintensities in both patients and a large cystic lesion in the younger patient probably representing an old media infarction...
  6. ncbi request reprint Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    Am J Med Genet A 137:136-8. 2005
    ..The genes HDAC1, HDAC2, and HDAC8 do not seem to play a role in the pathogenesis of RTT and at least in our subgroup no mutations in the CDKL5 gene were detected...
  7. ncbi request reprint Molecular diagnosis of Rett syndrome
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    J Child Neurol 20:732-6. 2005
    ..In contrast, male individuals with mutations in the MECP2 gene are rare, and only a minority have clinical symptoms resembling Rett syndrome...
  8. pmc Very mild cases of Rett syndrome with skewed X inactivation
    P Huppke
    Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    J Med Genet 43:814-6. 2006
    ..It is therefore likely that there are individuals falling between these two extreme phenotypes...
  9. ncbi request reprint Treatment of epilepsy in Rett syndrome
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    Eur J Paediatr Neurol 11:10-6. 2007
    ..Purpose: To find the optimal treatment for epilepsy in RTT...
  10. doi request reprint Immunoglobulin therapy in idiopathic hypothalamic dysfunction
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Strasse 40, Göttingen D 37075, Germany
    Pediatr Neurol 41:232-4. 2009
    ..Assuming an autoimmune basis for this disorder, treatment during early stages of disease should be more effective. To facilitate such early treatment, increased awareness of this disorder is necessary, to allow for early diagnosis...
  11. doi request reprint Neuromyelitis optica and NMO-IgG in European pediatric patients
    P Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Strasse 40, D 37075 Gottingen, Germany
    Neurology 75:1740-4. 2010
    ..This study was performed to analyze the prevalence and the clinical course of NMO in a European pediatric cohort of patients with demyelinating CNS disorders...
  12. doi request reprint A practical guide to pediatric multiple sclerosis
    P Huppke
    Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert Koch Straße 40, Gottingen, Germany
    Neuropediatrics 41:157-62. 2010
    ..This article summarizes the information relevant to the neurologist and pediatric neurologist concerning the diagnosis, differential diagnosis and therapy for pediatric MS...
  13. ncbi request reprint Perisylvian polymicrogyria in Landau-Kleffner syndrome
    Peter Huppke
    Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Gottingen, Germany
    Neurology 64:1660. 2005
  14. ncbi request reprint Altered methylation pattern of the G6 PD promoter in Rett syndrome
    P Huppke
    Neuropediatric Department, Georg August Universitat Gottingen, Germany
    Neuropediatrics 33:105-8. 2002
    ..The finding of reduced methylation at the G6 PD promoter is an interesting finding and suggests that there could be widespread dysregulation of X chromosomal genes in Rett syndrome...
  15. ncbi request reprint Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
    P Huppke
    Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Georg August Universitat Gottingen, Germany
    Neuropediatrics 33:63-8. 2002
    ..We conclude that mutation type and location correlate with the phenotype in Rett syndrome. All mutations that impair the nuclear localisation signal (NLS) are associated with more severe phenotypes...
  16. ncbi request reprint Eosinophilic fasciitis leading to painless contractures
    Peter Huppke
    Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Georg August Universitat Gottingen, Robert Koch Strasse 40, 37075 Gottingen, Germany
    Eur J Pediatr 161:528-30. 2002
    ..Following treatment with pulsed steroids, the contractures resolved...
  17. ncbi request reprint Indication for genetic testing: a checklist for Rett syndrome
    Peter Huppke
    Neuropediatric Department and Department of Genetic Epidemiology, Institute of Human Genetics, Georg August Universitat Gottingen, Gottingen, Germany
    J Pediatr 142:332-5. 2003
    ..The girls with MECP2-positive results included 2 girls with forme fruste and 2 with congenital RTT. Study design Based on the original diagnostic criteria for RTT, we developed a 10-item checklist with a score ranging from 0 to 12...
  18. ncbi request reprint The spectrum of phenotypes in females with Rett Syndrome
    Peter Huppke
    Neuropediatric Department, Abteilung Kinderheilkunde, Georg August Universitat Gottingen, Robert Koch Strasse 40 37075 Göttingen, Germany
    Brain Dev 25:346-51. 2003
    ..As a result of molecular genetic analysis a broad spectrum of phenotypes in RTT females has evolved. We found evidence that the defect in MeCP2 influences the somatic growth before birth...
  19. pmc MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
    R Trappe
    Institute of Human Genetics, , Germany
    Am J Hum Genet 68:1093-101. 2001
    ..This distinction will allow geneticists to offer more-specific counseling and discriminate between higher (maternal origin) and lower (paternal origin) recurrence risk...
  20. ncbi request reprint Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
    P Huppke
    Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Gottingen, Germany
    Hum Mol Genet 9:1369-75. 2000
    ..Three mutation hotspots (T158M, R168X and R255X) were confirmed and a further one (R270X) newly identified. We recommend screening for these mutations before analysing the coding region...
  21. ncbi request reprint Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
    F Laccone
    Institute of Human Genetics, Georg August University Gottingen, Gottingen, Germany
    Hum Mutat 17:183-90. 2001
    ..The detection rate in our collective was 77.6%. Our findings show that the majority of German Rett patients carry mutations in the MECP2 gene confirming the suggested locus homogeneity for the disease...
  22. ncbi request reprint Fetal alcohol syndrome in association with Rett syndrome
    B Zoll
    Institute for Human Genetics, Georg August University, Goettingen, Germany
    Genet Couns 15:207-12. 2004
    ..Our report highlights the importance of considering the diagnosis of RETT syndrome even in patients who are already suffering from a defined disease...
  23. ncbi request reprint Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
    Franco Laccone
    Institute of Human Genetics, University of Gottingen, Germany
    Hum Mutat 23:234-44. 2004
    ..We suggest that routine mutation screening in MECP2 should include quantitative analysis of the genomic sequences flanking the DPR...
  24. ncbi request reprint Spontaneous central apneas occur in the C57BL/6J mouse strain
    Georg M Stettner
    Department of Pediatrics and Pediatric Neurology, University Medicine Gottingen, Georg August University, Robert Koch Str 40, D 37075 Gottingen, Germany
    Respir Physiol Neurobiol 160:21-7. 2008
    ..We conclude that spontaneous central apneas with active laryngeal closure occur in C57BL/6J mice. This mouse strain is a useful animal model to study neuronal mechanisms that underlie the generation of spontaneous central apneas...
  25. pmc Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice
    Georg M Stettner
    Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str 40, 37075 Gottingen, Germany
    J Physiol 579:863-76. 2007
    ....
  26. ncbi request reprint Visually self-induced seizures sensitive to round objects
    Knut Brockmann
    Department of Pediatrics and Neuropediatrics, Georg August University, Gottingen, Germany
    Epilepsia 46:786-9. 2005
    ..To describe a previously unreported type of self-induced pattern-sensitive seizures in a child...
  27. doi request reprint Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
    B Zirn
    Institute of Human Genetics, Schlangenzahl 14, D 35392 Giessen, Germany
    J Neurol Neurosurg Psychiatry 79:1327-30. 2008
    ..The three-nucleotide deletion, triangle upGAG (within the gene TOR1A), is the only proven cause of childhood-onset dystonia (DYT1). A potentially pathogenic role of additional sequence changes within TOR1A has not been conclusively shown...
  28. doi request reprint Clinical presentation of pediatric multiple sclerosis before puberty
    B Huppke
    Department of Pediatrics and Pediatric Neurology, University Medical Center, Georg August University Gottingen, Gottingen, Germany
    Eur J Neurol 21:441-6. 2014
    ..Multiple sclerosis (MS) onset before puberty is extremely rare and establishment of diagnosis is often difficult due to atypical presentation. The study aims to identify the typical presentation of MS in this age group...
  29. ncbi request reprint Acute motor and sensory axonal neuropathy (AMSAN) in a 15-year-old boy presenting with severe pain and distal muscle weakness
    K M Rostasy
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany
    Neuropediatrics 36:260-4. 2005
    ..Marked improvement of his condition was achieved by treatment with intravenous immunoglobulins, high-dose methylprednisolone, and a combination of gabapentin, antidepressants, and an oral morphine...
  30. doi request reprint Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics
    Cornelia Brendel
    Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, D 37075 Germany
    Pediatr Res 65:520-3. 2009
    ..We have shown that aminoglycoside-mediated read-through of nonsense mutations in the MECP2 gene can be achieved in vitro with efficiency comparable with that seen in other disorders...
  31. ncbi request reprint Disturbances of breathing in Rett syndrome: results from patients and animal models
    Georg M Stettner
    Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str 40, 37075 Gottingen, Germany
    Adv Exp Med Biol 605:503-7. 2008
  32. ncbi request reprint EEG features of glut-1 deficiency syndrome
    Arpad von Moers
    Department of Pediatrics and Neuropediatrics, Charite Campus Virchow, Humboldt University, Berlin, Germany
    Epilepsia 43:941-5. 2002
    ..Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels...