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GENATLAS PHENOTYPE
last update : 15-03-2017
Symbol FCDBC
Location 9q34.13
Name focal cortical dysplasia of Taylor balloon cell type
Corresponding gene TSC1
Other symbol(s) FCDT
Main clinical features
  • epilepsy-associated without additional features of neurocutaneous phacomatosis
  • 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB
  • drug-resistant epilepsy that were characterized neuropathologically by large, disfigured neurons, oversized and atypical astrocytes, and ballooned multinucleated giant cells
  • Genetic determination not applicable
    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))