TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study: Genetics in Medicine

B. Ogórek, L. Hamieh, H.M. Hulshof, K. Lasseter, K. Klonowska, H. Kuijf, R. Moavero, C. Hertzberg, B. Weschke, K. Riney, M. Feucht, T. Scholl, P. Krsek, R. Nabbout, A.C. Jansen, B. Benova, E. Aronica, L. Lagae, P. Curatolo, J. BorkowskaK. Sadowski, D. Domańska-Pakieła, S. Janson, P. Kozlowski, M. Urbanska, J. Jaworski, S. Jozwiak, F.E. Jansen, K. Kotulska, D.J. Kwiatkowski, EPISTOP Consortium members

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. Methods: Infants were enrolled at age
Original languageEnglish
Pages (from-to)1489-1497
Number of pages9
JournalGen. Med.
Volume22
Issue number9
DOIs
Publication statusPublished - 2020

Keywords

  • clinical manifestations
  • mosaicism
  • TSC1
  • TSC2
  • tuberous sclerosis complex (TSC)
  • Article
  • brain disease
  • clinical feature
  • cohort analysis
  • cortical tuber
  • developmental delay
  • disease severity
  • drug resistant epilepsy
  • electroencephalography
  • gene
  • genetic association
  • genetic disorder
  • genetic variability
  • genome
  • genotype phenotype correlation
  • hemangiofibroma
  • human
  • hypopigmentation
  • infant
  • kidney cyst
  • major clinical study
  • massively parallel sequencing
  • multiplex ligation dependent probe amplification
  • neuroimaging
  • nuclear magnetic resonance imaging
  • prediction
  • risk factor
  • seizure
  • sequence analysis
  • subependymal giant cell astrocytoma
  • survival rate
  • TSC1 gene
  • TSC2 gene
  • tuberous sclerosis complex

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