| H01251 | |
| H番号 | H01251 |
| 名称 | 限局性皮質異形成 II 型 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | MTOR [HSA:2475] [KO:K07203] TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA05.51 ICD-10: Q04.8 MeSH: C537067 OMIM: 607341 |
| 文献 | PMID:12135964 著者 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 タイトル Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. 雑誌 Brain 125:1719-32 (2002) DOI:10.1093/brain/awf175 PMID:25799227 (mTOR) 著者 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 タイトル Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 雑誌 Nat Med 21:395-400 (2015) DOI:10.1038/nm.3824 PMID:19918125 (TSC1 TSC2) 著者 Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A タイトル Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro. 雑誌 J Neuropathol Exp Neurol 68:1136-46 (2009) DOI:10.1097/NEN.0b013e3181b9a699 |