KEGG   DISEASE: H01258Help
Entry
H01258                      Disease                                

Name
Generalized epilepsy and paroxysmal dyskinesia (GEPD)
Description
Epilepsy is one of the most common and debilitating neurological disorders, and Paroxysmal dyskinesias are another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. GEPD is a syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia. It has been reported that a mutation of the alpha subunit of the BK channel causes this syndrome.
Category
Nervous system disease; Epilepsy
BRITE hierarchy
Pathway
Vascular smooth muscle contraction
Gene
KCNMA1 [HSA:3778] [KO:K04936]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)

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