1 | DYT18, DYT9, SLC2A1
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| Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
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| Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, Schüle R, Wuttke TV, Maljevic S, Liebrich J, Gasser T, Ludolph AC, Van Paesschen W, Schöls L, De Jonghe P, Auburger G, Lerche H.
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| Neurology 77(10):959-64. Epub 2011 Aug 10.
2011
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2 | DYT1, DYT11, DYT12, DYT13, DYT15, DYT3, DYT5, DYT6, DYT7, DYT7, DYT8, DYT9, EKD1, EKD2
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| The pathophysiological basis of dystonias.
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| Breakefield XO, Blood AJ, Li Y, Hallett M, Hanson PI, Standaert DG.
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| Nat Rev Neurosci 9(3):222-34. 2008
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3 | ATP1A3, DYT12, DYT8, DYT9, EKD1, EKD2
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| What happens when the pumps fail? Mutations in ATP1A3 are linked to dystonia.
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| Warby S.
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| Clin Genet 66(5):393-5. No abstract available. 2004
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4 | DYT9
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| A gene for autosomal dominant paroxysmal choreoathetosis/spasticity(CSE) maps to the vicinity of a potassium channel gene cluster on chromosome1p, probably within 2 cM between D1S443 and D1S197.
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| Auburger G, et al.
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| Genomics 31 : 90-94. 1996
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