Episodic ataxia, type 1; EA1

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

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

Ligands

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

References

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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]