Episodic ataxia, type 1; EA1
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 328 | |
| Name: | Episodic ataxia, type 1; EA1 | |
| Associated with: | 1 target | |
| Synonyms |
| Episodic ataxia | Hereditary continuous muscle fiber activity |
| Database Links |
|
Disease Ontology:
DOID:963 OMIM: 160120 Orphanet: ORPHA972, ORPHA37612 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| Kv1.1 | |
| References: | 1-2,6,9 |
| Mutations: | Kv1.1 is associated with 15 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Episodic ataxia, type 1; EA1
References
1. Adelman JP, Bond CT, Pessia M, Maylie J. (1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron, 15 (6): 1449-54. [PMID:8845167]
2. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet, 8 (2): 136-40. [PMID:7842011]
3. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics, 8 (2): 131-5. [PMID:17136396]
4. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG et al.. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol, 48 (4): 647-56. [PMID:11026449]
5. Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ. (2009) A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest, 119 (4): 936-42. [PMID:19307729]
6. Herson PS, Virk M, Rustay NR, Bond CT, Crabbe JC, Adelman JP, Maylie J. (2003) A mouse model of episodic ataxia type-1. Nat Neurosci, 6 (4): 378-83. [PMID:12612586]
7. Manganas LN, Akhtar S, Antonucci DE, Campomanes CR, Dolly JO, Trimmer JS. (2001) Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. J Biol Chem, 276 (52): 49427-34. [PMID:11679591]
8. Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH. (1998) Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet, 102 (4): 464-6. [PMID:9600245]
9. Zerr P, Adelman JP, Maylie J. (1998) Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J Neurosci, 18 (8): 2842-8. [PMID:9526001]
10. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Stephenson JP, Kullmann DM et al.. (1999) A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain, 122 ( Pt 5): 817-25. [PMID:10355668]
