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Episodic ataxia, type 1; EA1

Disease ID:328
Name:Episodic ataxia, type 1; EA1
Associated with:1 target
Episodic ataxia | Hereditary continuous muscle fiber activity
Database Links
Disease Ontology: DOID:963
OMIM: 160120
Orphanet: ORPHA972, ORPHA37612


References:  1-2,6,9
Mutations:  Kv1.1 is associated with 15 mutation. Click here for details


No ligand related data available for Episodic ataxia, type 1; EA1


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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]