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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))