KEGG DISEASE: Focal cortical dysplasia of Taylor

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:

ICD-10:

MeSH:

OMIM:

Reference

PMID:12135964

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

LinkDB

» Japanese version

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