Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 13-04-2017
Symbol FCDBC2
Location 1p36.22
Name focal cortical dysplasia of Taylor balloon cell type 2
Corresponding gene MTOR
Main clinical features
  • intractable focal epilepsies that require surgical treatment
  • characterized by cortical dyslamination and dysmorphic neurons
  • Genetic determination epigenetic
    Prevalence . 25p100 of individuals with FCD
    Function/system disorder neurology
    Type disease
    Remark(s)
  • 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)))