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Journal Abstract Search

339 related items for PubMed ID: 21827920

  • 21. Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification.
    Cleves C, Parikh S, Rothner AD, Tepper SJ.
    Cephalalgia; 2010 Jun; 30(6):740-3. PubMed ID: 19624685
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  • 22. Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases.
    Ling X, Zhao DH, Zhao J, Shen B, Yang X.
    Int J Neurosci; 2019 Feb; 129(2):103-109. PubMed ID: 29883219
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  • 25. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
    Cricchi F, Di Lorenzo C, Grieco GS, Rengo C, Cardinale A, Racaniello M, Santorelli FM, Nappi G, Pierelli F, Casali C.
    J Neurol Sci; 2007 Mar 15; 254(1-2):69-71. PubMed ID: 17292920
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  • 26. Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
    Yuan H, Yuan H, Wang Q, Ye W, Yao R, Xu W, Liu Y.
    Mol Genet Genomic Med; 2020 Oct 15; 8(10):e1434. PubMed ID: 32705822
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  • 27. Paroxysmal movement disorders and episodic ataxias.
    Fernández-Alvarez E, Perez-Dueñas B.
    Handb Clin Neurol; 2013 Oct 15; 112():847-52. PubMed ID: 23622292
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  • 28. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E.
    J Neurol Sci; 2014 Jul 15; 342(1-2):69-78. PubMed ID: 24836863
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  • 29. Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
    Tristán-Clavijo E, Scholl FG, Macaya A, Iglesias G, Rojas AM, Lucas M, Castellano A, Martinez-Mir A.
    Mov Disord; 2016 Nov 15; 31(11):1743-1748. PubMed ID: 27477325
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  • 30. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
    Imbrici P, Altamura C, Gualandi F, Mangiatordi GF, Neri M, De Maria G, Ferlini A, Padovani A, D'Adamo MC, Nicolotti O, Pessia M, Conte D, Filosto M, Desaphy JF.
    Mol Cell Neurosci; 2017 Sep 15; 83():6-12. PubMed ID: 28666963
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  • 32. Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation.
    Jorge A, Melancia D, Figueiredo C, Galego O, Oliveira J, Martins AI, Lemos J.
    Mov Disord; 2022 Feb 15; 37(2):430-432. PubMed ID: 34719831
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  • 34. Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
    Zafeiriou DI, Lehmann-Horn F, Vargiami E, Teflioudi E, Ververi A, Jurkat-Rott K.
    Eur J Paediatr Neurol; 2009 Mar 15; 13(2):191-3. PubMed ID: 18602318
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  • 37. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
    Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C.
    Eur J Med Genet; 2014 Apr 15; 57(5):207-11. PubMed ID: 24486772
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  • 38. Primary episodic ataxias: diagnosis, pathogenesis and treatment.
    Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW, CINCH investigators.
    Brain; 2007 Oct 15; 130(Pt 10):2484-93. PubMed ID: 17575281
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  • 39. Episodic ataxia type 2: an uncommon inherited CNS channelopathies.
    Pulkes T.
    J Med Assoc Thai; 2003 Apr 15; 86(4):376-80. PubMed ID: 12757085
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  • 40. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.
    Klein A, Boltshauser E, Jen J, Baloh RW.
    Neuropediatrics; 2004 Apr 15; 35(2):147-9. PubMed ID: 15127317
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