| 1 | CACNA1A, EA1, EA2, EA3, EA4, EA5, EA6, EAAT1, KCNA1, SCA6
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| Late onset hereditary episodic ataxia.
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| Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.
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| J Neurol Neurosurg Psychiatry 80(5):566-8.
2009
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| 2 | EA1, KCNA1
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| A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
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| Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.
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| Mov Disord 24(5):778-82.PMID: 19205071 2009
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| 3 | EA1, KCNA1
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| Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
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| Shook SJ, Mamsa H, Jen JC, Baloh RW, Zhou L.
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| Muscle Nerve 37(3):399-402.PMID: 17912752 2008
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| 4 | CACNA1A, EA1, EA2, KCNA1
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| Primary episodic ataxias: diagnosis, pathogenesis and treatment.
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| Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators.
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| Brain 130(Pt 10):2484-93. Epub 2007 Jun 15. Review. 2007
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| 5 | EA1, KCNA1
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| Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.
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| Imbrici P, D'Adamo MC, Kullmann DM, Pessia M.
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| Eur J Neurosci 24(11):3073-83. 2006
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| 6 | KCNA1, EA1
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| A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
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| Zuberi SM, et al.
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| Brain 122 ( Pt 5):817-25. 1999
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| 7 | KCNA1, EA1
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| Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.
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| D'Adamo MC, Imbrici P, Sponcichetti F, Pessia M.
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| FASEB J 13(11):1335-45 1999
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| 8 | EA1,KCNA1
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| Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
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| D'Adamo MC, Liu Z, Adelman JP, Maylie J, Pessia M.
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| EMBO J 17(5):1200-7. 1998
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| 9 | EA1, KCNA1
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| Three novel KCNA1 mutations in episodic ataxia type I families.
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| Scheffer H, et al.
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| Hum Genet 102 : 464-466. 1998
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| 10 | EA1,KCNA1
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| Episodic ataxia and myokymia syndrome : a new mutation of potassium channel gene Kv1.1.
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| Comu S, et al.
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| Ann Neurol 40 : 684-687. 1996
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| 11 | KCNA1, EA1
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| Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
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| Browne DL, et al.
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| Hum Mol Genet 4 : 1671-1672. 1995
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| 12 | KCNA1, EA1
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| Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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| Browne DL, et al.
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| Nat Genet 8 : 136-140. 1994
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| 13 | EA1
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| A gene for episodic ataxia/myokymia maps to chromosome 12p13.
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| Litt M, et al.
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| Am J Hum Genet 55 : 702-709. 1994
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