Ingo Helbig

Summary

Affiliation: University of Kiel
Country: Germany

Publications

  1. doi request reprint The unexpected role of copy number variations in juvenile myoclonic epilepsy
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsy Behav 28:S66-8. 2013
  2. pmc Genetics of the epilepsies: where are we and where are we going?
    Ingo Helbig
    Department of Neuropediatrics, Christian Albrechts University of Kiel and University Medical Center Schleswig Holstein, Kiel, Germany
    Curr Opin Neurol 26:179-85. 2013
  3. doi request reprint A retrospective population-based study on seizures related to childhood vaccination
    Sarah von Spiczak
    Department of Neuropediatrics, Christian Albrechts University Kiel and University Medical Centre Schleswig Holstein, Kiel, Germany
    Epilepsia 52:1506-12. 2011
  4. pmc Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
    Hiltrud Muhle
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsia 52:e194-8. 2011
  5. doi request reprint CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients
    Johanna Jähn
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Kiel, Germany
    J Child Neurol 28:937-41. 2013
  6. pmc Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis
    Corinna Hartmann
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsia 56:e26-32. 2015
  7. doi request reprint Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome
    Jan Moehring
    Department of Neuropediatrics, Christian Albrechts University, Kiel, Germany
    Epilepsia 54:918-26. 2013
  8. doi request reprint Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis
    Hiltrud Muhle
    Department of Neuropediatrics, University Hospital of Kiel, Schwanenweg 20, 24105 Kiel, Germany
    Epilepsy Res 89:319-26. 2010
  9. doi request reprint Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies
    Johanna A Jähn
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Campus Kiel, Kiel, Germany Electronic address
    Epilepsy Res 108:109-16. 2014
  10. pmc Structural genomic variation in childhood epilepsies with complex phenotypes
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Kiel, Germany
    Eur J Hum Genet 22:896-901. 2014

Collaborators

Detail Information

Publications24

  1. doi request reprint The unexpected role of copy number variations in juvenile myoclonic epilepsy
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsy Behav 28:S66-8. 2013
    ..In addition, the particular genetic properties of structural genomic variations as rare genetic variants highlight the complexity of the genetic architecture of human disease...
  2. pmc Genetics of the epilepsies: where are we and where are we going?
    Ingo Helbig
    Department of Neuropediatrics, Christian Albrechts University of Kiel and University Medical Center Schleswig Holstein, Kiel, Germany
    Curr Opin Neurol 26:179-85. 2013
    ....
  3. doi request reprint A retrospective population-based study on seizures related to childhood vaccination
    Sarah von Spiczak
    Department of Neuropediatrics, Christian Albrechts University Kiel and University Medical Centre Schleswig Holstein, Kiel, Germany
    Epilepsia 52:1506-12. 2011
    ..This study aims to describe the clinical features of children presenting with seizures after vaccination using a register-based cohort...
  4. pmc Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
    Hiltrud Muhle
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsia 52:e194-8. 2011
    ..We suggest that absence epilepsy accompanied by intellectual disability may represent a common phenotype of the 15q13.3 microdeletion in pediatric patients with epilepsy...
  5. doi request reprint CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients
    Johanna Jähn
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Kiel, Germany
    J Child Neurol 28:937-41. 2013
    ..CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes...
  6. pmc Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis
    Corinna Hartmann
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsia 56:e26-32. 2015
    ..The identified genomic aberrations overlap with known neurodevelopmental disorders, suggesting that fever-associated epilepsy syndromes may be a recurrent clinical presentation of known microdeletion syndromes...
  7. doi request reprint Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome
    Jan Moehring
    Department of Neuropediatrics, Christian Albrechts University, Kiel, Germany
    Epilepsia 54:918-26. 2013
    ..The aim of this study was to identify a syndrome-specific epileptic network underlying interictal epileptiform discharges (IEDs) in patients with DS...
  8. doi request reprint Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis
    Hiltrud Muhle
    Department of Neuropediatrics, University Hospital of Kiel, Schwanenweg 20, 24105 Kiel, Germany
    Epilepsy Res 89:319-26. 2010
    ..3 where tentative susceptibility loci for Juvenile Myoclonic Epilepsy (JME) and Photoparoxysmal Response (PPR) have been mapped. The present candidate gene study examined if variation in GRM4 confers susceptibility to IGE...
  9. doi request reprint Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies
    Johanna A Jähn
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Campus Kiel, Kiel, Germany Electronic address
    Epilepsy Res 108:109-16. 2014
    ..This microdeletion triad might help delineate a novel spectrum of epilepsy phenotypes classifiable through clinical, electrographic and genetic data. ..
  10. pmc Structural genomic variation in childhood epilepsies with complex phenotypes
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Kiel, Germany
    Eur J Hum Genet 22:896-901. 2014
    ..Performing genome-wide screens for rare CNVs can be a valuable contribution to the routine diagnostic workup in patients with a broad range of childhood epilepsies. ..
  11. doi request reprint Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies
    Anna Baumgart
    1Department of Neuropediatrics, University Medical Center Schleswig Holstein, Kiel, Germany
    J Child Neurol 29:704-7. 2014
    ..Hidden" vitamin B6 deficiencies might be rare but treatable causes of unexplained epilepsy extending beyond the classical phenotypes. ..
  12. doi request reprint The role of SLC2A1 in early onset and childhood absence epilepsies
    Hiltrud Muhle
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Christian Albrechts University, Kiel, Germany
    Epilepsy Res 105:229-33. 2013
    ..The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE...
  13. doi request reprint Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity
    Sarah von Spiczak
    Department of Neuropediatrics, University Hospital Schleswig Holstein, Campus Kiel, Arnold Heller Str 3, Building 9, Kiel, Germany
    Neuromolecular Med 12:292-9. 2010
    ..Our results showed a trend toward association of TRPC4 variants and PPR/IGE. Further studies including larger samples of photosensitive probands are required to clarify the relevance of TRPC4 for PPR and IGE...
  14. doi request reprint A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
    Hiltrud Muhle
    Department of Neuropediatrics, University Hospital Schleswig Holstein, Campus Kiel, Christian Albrechts University, Kiel, Germany
    Epilepsia 51:2453-6. 2010
    ..Both are candidate genes for seizure disorders. The duplication was not identified in 191 independent IGE patients (93 EOAE; 98 classical IGE) or in 1,157 population controls...
  15. doi request reprint Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach
    Sarah von Spiczak
    Department of Neuropediatrics, Christian Albrechts University Kiel and University Medical Center Schleswig Holstein, Campus Kiel, Kiel, Germany
    Epilepsia 52:e143-7. 2011
    ..Even though our mutation analysis failed to demonstrate direct involvement of GRIN2A in photosensitivity, in silico gene prioritization may provide a useful tool for the identification of candidate genes within large genomic regions...
  16. doi request reprint Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations
    Silke Appenzeller
    Institute of Experimental Medicine, Christian Albrechts University, Kiel, Germany
    Dev Med Child Neurol 54:1144-8. 2012
    ..Additionally, given that rare copy number variations (CNVs) have recently been established as important risk factors for epilepsies, we performed a genome-wide CNV analysis...
  17. pmc GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
    Gemma L Carvill
    From the Division of Genetic Medicine, Department of Pediatrics G L C, C H, J C, E G, H C M, and the Department of Genome Sciences J S, University of Washington, Seattle Neurogenetics Group S W, Department of Molecular Genetics, VIB, Antwerp Laboratory of Neurogenetics S W, A s, P D J, Institute Born Bunge, University of Antwerp, Belgium Epilepsy Centre Kempenhaeghe S W, Oosterhout, the Netherlands Epilepsy Research Centre J M M, S F B, I E S, Department of Medicine, University of Melbourne, Austin Health, Australia Department of Neuropediatrics C H, H M, S V S, I H, University Medical Center, Schleswig Holstein, Christian Albrechts University, Kiel, Germany Danish Epilepsy Centre R S M, H H, M N, Polar Desert Research Center
    Neurology 82:1245-53. 2014
    ..To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing...
  18. pmc Familial cosegregation of rare genetic variants with disease in complex disorders
    Ingo Helbig
    Department of Neuropediatrics, Christian Albrechts University Kiel, Kiel, Germany
    Eur J Hum Genet 21:444-50. 2013
    ..These findings provide guidance for the design of family-based studies of rare variants in complex disorders...
  19. doi request reprint Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein, Kiel Campus, Arnold Heller Str 3, Haus 9, 24105, Kiel, Germany
    Eur J Pediatr 169:495-500. 2010
    ..Recognition of further cases may help elucidate the aetiology of this condition and give insight into the pathophysiology of both pigmentation disorders and epileptic encephalopathies...
  20. pmc 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein Kiel Campus, Schwanenweg 20, 24105 Kiel, Germany
    Nat Genet 41:160-2. 2009
    ..3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date...
  21. pmc Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci
    Hamid Reza Saadati
    Institute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Schittenhelmstr 12, 24105, Kiel, Germany
    BMC Med Genet 17:26. 2016
    ..In this study, we performed a multi-step genome-wide case-control analysis to interrogate the presence of disease-relevant rare copy number variants...
  22. pmc Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
    Rikke S Møller
    From the Danish Epilepsy Centre R S M, K M J, M N, Dianalund Institute for Regional Health Services R S M, K M J, M N, University of Southern Denmark, Odense Department of Neurology and Epileptology T V W, S V, H L, S M, Hertie Institute for Clinical Brain Research, and Department of Neurosurgery T V W, University of Tübingen Department of Neuropediatrics I H, M P, S V S, H M, University Medical Center Schleswig Holstein, Kiel, Germany Division of Neurology I H, S H, H D, The Children s Hospital of Philadelphia, PA Neuroscience Department C M, R G, Children s Hospital Anna Meyer University of Florence, Italy Department of Genetics E H B, M S, K L v G, University Medical Center Utrecht, the Netherlands Department of Neurology and Neurorehabilitation U V, I T, T T
    Neurology . 2017
    ....
  23. doi request reprint A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome
    Blanca Tro-Baumann
    Department of Neuropediatrics, BHZ Vogtareuth, Epilepsy Center, Vogtareuth, Germany
    Epilepsia 52:175-8. 2011
    ..Our findings highlight seizures after vaccinations as a common feature in Dravet syndrome and emphasize the need for preventive measures for seizures triggered by vaccination or fever in these children...
  24. pmc In vivo evidence for the involvement of the carboxy terminal domain in assembling connexin 36 at the electrical synapse
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein UKSH, Schwanenweg 20, 24105 Kiel, Germany
    Mol Cell Neurosci 45:47-58. 2010
    ....