| H01258 | |
| H番号 | H01258 |
| 名称 | 全般てんかん及び発作性ジスキネジア |
| 概要 | Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. It has been reported that a mutation of the alpha subunit of the BK channel causes a syndrome of coexistent epilepsy and paroxysmal dyskinesia, which is called generalized epilepsy and paroxysmal dyskinesia (GEPD). |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | KCNMA1 [HSA:3778] [KO:K04936] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61.2Y ICD-10: G40.4 MeSH: C563719 OMIM: 609446 |
| 文献 | PMID:15937479 著者 Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Luders HO, Shi J, Cui J, Richerson GB, Wang QK タイトル Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. 雑誌 Nat Genet 37:733-8 (2005) DOI:10.1038/ng1585 |