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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-04-2017
Symbol FCDBC3
Location 16p13.3
Name focal cortical dysplasia of Taylor balloon cell type 3
Corresponding gene TSC2
Main clinical features
  • intractable focal epilepsies that require surgical treatment
  • characterized by cortical dyslamination and dysmorphic neurons
  • Genetic determination other
    Function/system disorder neurology
    Type disease
  • caused by somatic mutations in the brain (PMID: 28215400))
  • identified TSC1 and TSC2 mutations are closely associated with both aberrant MTOR activation and dysregulation of neuronal growth in individuals with FCDBC2 and FCDBC (PMID: 28215400))