| 1 | CACNA1A, EA2
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| A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy
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| Penkava J, Ledderose S, Chahrokh-Zadeh S, Munzig A, Eulenburg Z, Huppert D, Strupp M, Becker-Bense S.
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| J Neurol. Dec;267(Suppl 1):181-184. doi: 10.1007/s00415-020-10190-1. Epub 2020 Sep 10. 2020
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| 2 | CACNA1A, EA2
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| Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
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| Travaglini L, Nardella M, Bellacchio E, D'Amico A, Capuano A, Frusciante R, Di Capua M, Cusmai R, Barresi S, Morlino S, Fernández-Fernández JM, Trivisano M, Specchio N, Valeriani M, Vigevano F, Bertini E, Zanni G.
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| Eur J Paediatr Neurol. May;21(3):450-456. doi: 10.1016/j.ejpn.2016.11.005. Epub 2016 Nov 30. 2017
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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 | CACNA1A, EA2
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| Axonal function in a family with episodic ataxia type 2 due to a novel mutation.
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| Krishnan AV, Bostock H, Ip J, Hayes M, Watson S, Kiernan MC.
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| J Neurol 255(5):750-5. Epub 2008 Mar 14.PMID: 18338196 2008
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| 5 | 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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| 6 | EA2, CACNA1A
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| Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
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| Spacey SD, Materek LA, Szczygielski BI, Bird TD.
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| Arch Neurol 62(2):314-6. 2005
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| 7 | CACNA1A, EA2
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| CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
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| Wan J, Khanna R, Sandusky M, Papazian DM, Jen JC, Baloh RW.
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| Neurology 64(12):2090-7. 2005
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| 8 | CACNA1A,EA2
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| Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
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| Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG.
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| Neurology 65(6):944-6. 2005
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| 9 | CACNA1A, EA2, MHP1
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| Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
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| Mullner C, Broos LA, van den Maagdenberg AM, Striessnig J.
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| J Biol Chem 279(50):51844-50. Epub 2004 Sep 23. 2004
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| 10 | CACNA1A, EA2, SCA6
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| Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
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| Mantuano E, Veneziano L, Jodice C, Frontali M.
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| Cytogenet Genome Res 100(1-4):147-53. 2003
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| 11 | EA2, CACNA1A
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| Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
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| Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM.
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| Ann Neurol 54(6):725-31. 2003
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| 12 | EA2, CACNA1A
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| Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.
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| Sander T, Toliat MR, Heils A, Becker C, Nurnberg P.
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| Epilepsy Res 49(2):173-7. 2002
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| 13 | CACNA1A, EA2, MHP1, SCA6
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| Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
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| Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D.
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| Am J Hum Genet 68(3):759-64. 2001
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| 14 | CACNA1A, EA2, MHP1
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| Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
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| Ducros A, et al.
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| Am J Hum Genet 64 : 89-98. 1999
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| 15 | CACNA1A, EA2
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| High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
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| Denier C, et al.
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| Neurology 52(9):1816-21. 1999
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| 16 | CACNA1A, EA2
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| De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
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| Yue Q, et al.
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| Am J Med Genet 77 : 298-301. 1998
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| 17 | EA2
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| Acetazolamide-responsive episodic ataxia in an Italian family gene mapping on chromosome 19p13.
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| Calandriello L, Veneziano L, Francia A, Sabbadini G, Colonnese C, Mantuano E, Jodice C, Trettel F, Viviani P, Manfredi M, Frontali M.
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| Brain 120 ( Pt 5):805-12. 1997
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| 18 | CACNA1A, EA2, SCA6
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| Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
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| Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M.
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| Hum Mol Genet 6(11):1973-8. 1997
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| 19 | CACNA1A, EA2
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| Progressive ataxia due to a missense mutation in a calcium-channel gene.
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| Yue Q, Jen JC, Nelson SF, Baloh RW.
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| Am J Hum Genet 61(5):1078-87. 1997
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| 20 | CACNA1A, D19S1150, EA2, MHP1
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| Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
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| Ophoff RA, et al.
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| Cell 87 : 543-552. 1996
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| 21 | EA2
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| Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
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| von Brederlow B, et al.
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| Hum Mol Genet 4 : 279-284. 1995
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| 22 | EA2
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| A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.
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| Vahedi K, et al.
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| Ann Neurol 37 : 289-293. 1995
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| 23 | EA2
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| Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
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| Teh BT, et al.
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| Am J Hum Genet 56 : 1443-1449. 1995
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| 24 | EA2
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| A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p.
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| Kramer PL, et al.
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| Am J Hum Genet 57 : 182-185. 1995
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