Nienke E Verbeek

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. pmc Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study
    Nienke E Verbeek
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 8:e65758. 2013
  2. doi request reprint Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene
    Nienke E Verbeek
    DBG Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Epilepsia 52:e23-5. 2011
  3. pmc Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
    Linda Volkers
    Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Neurosci 34:1268-75. 2011
  4. pmc A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, Utrecht, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 153:960-6. 2010
  5. pmc Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
    Emma van Daalen
    Department of Child and Adolescent Psychiatry, University Medical Centre, Utrecht, The Netherlands
    Neurogenetics 12:315-23. 2011
  6. doi request reprint Copy number variations in patients with electrical status epilepticus in sleep
    Sietske H G Kevelam
    Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    J Child Neurol 27:178-82. 2012
  7. pmc Gene-network analysis identifies susceptibility genes related to glycobiology in autism
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 4:e5324. 2009
  8. doi request reprint Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions
    Linda Volkers
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Neurosci Lett 462:24-9. 2009

Collaborators

Detail Information

Publications8

  1. pmc Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study
    Nienke E Verbeek
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 8:e65758. 2013
    ..To determine differences in characteristics of reported seizures after vaccination in children with and without SCN1A-related Dravet syndrome...
  2. doi request reprint Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene
    Nienke E Verbeek
    DBG Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Epilepsia 52:e23-5. 2011
    ..A mild form of Dravet syndrome in adult patients is associated with a high recurrence risk and possibly a more severe epilepsy phenotype in their offspring...
  3. pmc Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
    Linda Volkers
    Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Neurosci 34:1268-75. 2011
    ..1 gating. Interestingly, while loss of Na(v) 1.1 function is common in DS, the R865G mutation may cause DS by overall gain-of-function defects...
  4. pmc A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, Utrecht, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 153:960-6. 2010
    ..247), which suggests that our findings should be interpreted with caution and indicates the need for studies that include large numbers of control subjects to ascertain the impact of these changes on a population scale...
  5. pmc Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
    Emma van Daalen
    Department of Child and Adolescent Psychiatry, University Medical Centre, Utrecht, The Netherlands
    Neurogenetics 12:315-23. 2011
    ..Our study extends the scope of genome-wide CNV profiling beyond de novo CNVs in sporadic patients and may aid in uncovering missing heritability in genome-wide screening studies of complex psychiatric disorders...
  6. doi request reprint Copy number variations in patients with electrical status epilepticus in sleep
    Sietske H G Kevelam
    Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    J Child Neurol 27:178-82. 2012
    ..However, further studies are needed to confirm our findings...
  7. pmc Gene-network analysis identifies susceptibility genes related to glycobiology in autism
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 4:e5324. 2009
    ..Our findings suggest that the occurrence of genomic gains and losses of genes associated with glycobiology are important contributors to the development of ASD...
  8. doi request reprint Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions
    Linda Volkers
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Neurosci Lett 462:24-9. 2009
    ....