KEGG   DISEASE: Focal cortical dysplasia of TaylorHelp
H01251                      Disease                                

Focal cortical dysplasia of Taylor;
Focal cortical dysplasia  type II
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.
Developmental disorder
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H01251  Focal cortical dysplasia of Taylor
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q00-Q07  Congenital malformations of the nervous system
   Q04  Other congenital malformations of brain
    H01251  Focal cortical dysplasia of Taylor
BRITE hierarchy
mTOR signaling pathway
Insulin signaling pathway
TSC1 [HSA:7248] [KO:K07206]
Other DBs
Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
Ann Neurol 52:29-37 (2002)
Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R
Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.
Brain 125:1719-32 (2002)
Lawson JA, Birchansky S, Pacheco E, Jayakar P, Resnick TJ, Dean P, Duchowny MS
Distinct clinicopathologic subtypes of cortical dysplasia of Taylor.
Neurology 64:55-61 (2005)
Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
Hamartin variants that are frequent in focal dysplasias and cortical tubers have  reduced tuberin binding and aberrant subcellular distribution in vitro.
J Neuropathol Exp Neurol 68:1136-46 (2009)

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