Focal cortical dysplasia of Taylor; Focal cortical dysplasia type II
Description
Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons. It has been found that inherited mutations in the TSC1 gene can cause this disorder.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of the nervous system
H01251 Focal cortical dysplasia of Taylor
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H01251 Focal cortical dysplasia of Taylor
Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
Title
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.