KEGG   DISEASE: Generalized epilepsy and paroxysmal dyskinesia
Entry
H01258                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H01258  Generalized epilepsy and paroxysmal dyskinesia
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H01258  Generalized epilepsy and paroxysmal dyskinesia
Pathway
hsa04270  Vascular smooth muscle contraction
Gene
KCNMA1 [HSA:3778] [KO:K04936]
Other DBs
ICD-11: 8A61.2Y
ICD-10: G40.4
MeSH: C563719
OMIM: 609446
Reference
  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
LinkDB

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