Nienke E Verbeek
Affiliation: University Medical Center Utrecht
Country: The Netherlands
- Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A geneNienke 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...
- A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorderBert 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...
- Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autismEmma 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...
- Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndromeLinda 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...
- Gene-network analysis identifies susceptibility genes related to glycobiology in autismBert 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...