KEGG   DISEASE: H01251Help
Entry
H01251                      Disease                                

Name
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
Developmental disorder
BRITE hierarchy
Pathway
mTOR signaling pathway
Insulin signaling pathway
Gene
TSC1 [HSA:7248] [KO:K07206]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I
  Title
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
  Journal
Ann Neurol 52:29-37 (2002)
Reference
  Authors
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
  Title
Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.
  Journal
Brain 125:1719-32 (2002)
Reference
  Authors
Lawson JA, Birchansky S, Pacheco E, Jayakar P, Resnick TJ, Dean P, Duchowny MS
  Title
Distinct clinicopathologic subtypes of cortical dysplasia of Taylor.
  Journal
Neurology 64:55-61 (2005)
Reference
  Authors
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.
  Journal
J Neuropathol Exp Neurol 68:1136-46 (2009)

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