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GENATLAS PHENOTYPE

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

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))