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Species | P HuppkeSummaryCountry: Germany Publications
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Publications
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutasePeter 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...- Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasminPeter 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... - Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse modelCornelia 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... 
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2Peter 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...- Two brothers with Hennekam syndrome and cerebral abnormalitiesP 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... - Molecular diagnosis of Rett syndromePeter 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... - Very mild cases of Rett syndrome with skewed X inactivationP 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... - Treatment of epilepsy in Rett syndromePeter 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... 
Immunoglobulin therapy in idiopathic hypothalamic dysfunctionPeter 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...- Neuromyelitis optica and NMO-IgG in European pediatric patientsP 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... - A practical guide to pediatric multiple sclerosisP 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... - Perisylvian polymicrogyria in Landau-Kleffner syndromePeter Huppke
Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, , Germany
Neurology 64:1660. 2005 - Influence of mutation type and location on phenotype in 123 patients with Rett syndromeP 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... - Altered methylation pattern of the G6 PD promoter in Rett syndromeP 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... - Eosinophilic fasciitis leading to painless contracturesPeter Huppke
Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Georg August Universitat Gottingen, Robert Koch Strasse 40, 37075 Gottingen, Germany
Eur J Pediatr 161:528-30. 2002..Pulsed steroid treatment was effective and without side-effects... - Indication for genetic testing: a checklist for Rett syndromePeter 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... - The spectrum of phenotypes in females with Rett SyndromePeter 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... - MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal originR 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... - Rett syndrome: analysis of MECP2 and clinical characterization of 31 patientsP 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... - Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regionsF 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... - Fetal alcohol syndrome in association with Rett syndromeB Zoll
Institute for Human Genetics, Georg August University, Goettingen, Germany
Genet Couns 15:207-12. 2004..808T>C (R270X) mutation located in the nuclear localisation signal sequence of the gene. Our report highlights the importance of considering the diagnosis of RETT syndrome even in patients who are already suffering from a defined disease... - Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeFranco 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... - Spontaneous central apneas occur in the C57BL/6J mouse strainGeorg 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... - Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout miceGeorg M Stettner
Department of Pediatrics and Pediatric Neurology, Georg August University, Robert Koch Str 40, 37075 Gottingen, Germany
J Physiol 579:863-76. 2007.... - Visually self-induced seizures sensitive to round objectsKnut 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... - 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... - Acute motor and sensory axonal neuropathy (AMSAN) in a 15-year-old boy presenting with severe pain and distal muscle weaknessK 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... - Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibioticsCornelia 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... - Disturbances of breathing in Rett syndrome: results from patients and animal modelsGeorg M Stettner
Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Str. 40, , Germany
Adv Exp Med Biol 605:503-7. 2008 - EEG features of glut-1 deficiency syndromeArpad von Moers
Department of Pediatrics and Neuropediatrics, , Humboldt University, Berlin, Germany
Epilepsia 43:941-5. 2002..Glut-1 deficiency was confirmed by biochemical and molecular genetic investigations. CONCLUSIONS: Pre- and postprandial EEG recordings offer a simple screening test for Glut-1 DS...