| 1 | EKD1, PRRT2
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| Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
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| Li J, Zhu X, Wang X, Sun W, Feng B, Du T, Sun B, Niu F, Wei H, Wu X, Dong L, Li L, Cai X, Wang Y, Liu Y.
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| J Med Genet 49(2):76-8. Epub 2011 Nov 30.
2012
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| 2 | EKD1, PRRT2
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| Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
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| Liu Q, Qi Z, Wan XH, Li JY, Shi L, Lu Q, Zhou XQ, Qiao L, Wu LW, Liu XQ, Yang W, Liu Y, Cui LY, Zhang X.
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| J Med Genet 49(2):79-82. Epub 2011 Dec 29.
2012
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| 3 | BFIS2, EKD1, ICCA, PRRT2
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| PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome.
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| Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.
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| Am J Hum Genet 90(1):152-60. 2012
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| 4 | EKD1, PRRT2
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| Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
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| Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY.
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| Nat Genet 43(12):1252-5. doi: 10.1038/ng.1008.
2011
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| 5 | EKD1, PRRT2
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| Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
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| Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS.
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| Brain 134(Pt 12):3493-3501. Epub 2011 Nov 26.
2011
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| 6 | 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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| 7 | EKD1
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| Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
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| Kikuchi T, Nomura M, Tomita H, Harada N, Kanai K, Konishi T, Yasuda A, Matsuura M, Kato N, Yoshiura K, Niikawa N.
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| J Hum Genet 52(4):334-41. Epub 2007 Feb 14. 2007
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| 8 | 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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| 9 | CDC42, EKD1, PARD6A, PARD6B, PARD6G, RAC1
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| Human homologues of the Caenorhabditis elegans cell polarity protein PAR6 as an adaptor that links the small GTPases Rac and Cdc42 to atypical protein kinase C.
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| Noda Y, Takeya R, Ohno S, Naito S, Ito T, Sumimoto H.
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| Genes Cells 6(2):107-19. 2001
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| 10 | EKD1, PARD3, PARD6A
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| Atypical protein kinase C is involved in the evolutionarily conserved par protein complex and plays a critical role in establishing epithelia-specific junctional structures.
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| Suzuki A, Yamanaka T, Hirose T, Manabe N, Mizuno K, Shimizu M, Akimoto K, Izumi Y, Ohnishi T, Ohno S.
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| J Cell Biol 152(6):1183-96. 2001
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| 11 | EKD1, EKD2, PKDK
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| A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.
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| Bennett LB, Roach ES, Bowcock AM.
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| Neurology 54(1):125-30. 2000
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| 12 | EKD1, EKD2
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| A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.
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| Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB.
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| Brain 123 ( Pt 10):2040-5. 2000
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| 13 | CDC42, EKD1, PARD3, PARD6A, PARD6B, PARD6G
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| The cell-polarity protein Par6 links Par3 and atypical protein kinase C to Cdc42.
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| Joberty G, Petersen C, Gao L, Macara IG.
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| Nat Cell Biol 2(8):531-9. 2000
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| 14 | EKD1, EKD2
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| Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.
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| Tomita Ha, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N.
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| Am J Hum Genet 65(6):1688-97 1999
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| 15 | EKD1
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| Molecular cloning and characterization of PKC iota, an atypical isoform of protein kinase C derived from insulin-secreting cells.
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| Selbie LA, Schmitz-Peiffer C, Sheng Y, Biden TJ.
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| J Biol Chem 268(32):24296-302. 1993
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