| H01251 | |
| H number | H01251 |
| 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 |
| Network | - |
| Gene | MTOR [HSA:2475] [KO:K07203] TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA05.51 ICD-10: Q04.8 MeSH: C537067 OMIM: 607341 |
| 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 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 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 |