| 1 | EA6, SLC1A3
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| A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents.
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| Winter N, Kovermann P, Fahlke C.
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| Brain 135(Pt 11):3416-25. doi: 10.1093/brain/aws255. Epub 2012 Oct 29.
2012
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| 2 | EA6, SLC1A3
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| Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
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| de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM.
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| Arch Neurol 66(1):97-101. Erratum in: Arch Neurol. 2009 Apr;66(4):497. Arch Neurol. 2009 Jun;66(6):772. 2009
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| 3 | 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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| 4 | SLC1A3, EA6
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| Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
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| Jen JC, Wan J, Palos TP, Howard BD, Baloh RW.
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| Neurology 65(4):529-34. 2005
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