| H01258 | |
| H number | H01258 |
| Name | Generalized epilepsy and paroxysmal dyskinesia |
| Description | 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). |
| Category | Nervous system disease |
| Network | - |
| Gene | KCNMA1 [HSA:3778] [KO:K04936] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61.2Y ICD-10: G40.4 MeSH: C563719 OMIM: 609446 |
| Reference | PMID:15937479 AUTHORS 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 TITLE Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. JOURNAL Nat Genet 37:733-8 (2005) DOI:10.1038/ng1585 |