KEGG   DISEASE: Focal cortical dysplasia of Taylor
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
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
Related
pathway
hsa04150  mTOR signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04910  Insulin signaling pathway
hsa04140  Autophagy - animal
Gene
MTOR [HSA:2475] [KO:K07203]
TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
Other DBs
ICD-11: LA05.51
ICD-10: Q04.8
MeSH: C537067
OMIM: 607341
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)
DOI:10.1093/brain/awf175
Reference
PMID:25799227 (mTOR)
  Authors
Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH
  Title
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
  Journal
Nat Med 21:395-400 (2015)
DOI:10.1038/nm.3824
Reference
PMID:19918125 (TSC1 TSC2)
  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)
DOI:10.1097/NEN.0b013e3181b9a699
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