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Items: 1 to 20 of 129

1.

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

Hu Y, Jiang H, Wang Q, Xie Z, Pan S.

PLoS One. 2013;8(2):e56362. doi: 10.1371/journal.pone.0056362. Epub 2013 Feb 18.

2.

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.

Nachbauer W, Nocker M, Karner E, Stankovic I, Unterberger I, Eigentler A, Schneider R, Poewe W, Delazer M, Boesch S.

J Neurol. 2014 May;261(5):983-91. Review.

PMID:
24658662
3.

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

Labrum RW, Rajakulendran S, Graves TD, Eunson LH, Bevan R, Sweeney MG, Hammans SR, Tubridy N, Britton T, Carr LJ, Ostergaard JR, Kennedy CR, Al-Memar A, Kullmann DM, Schorge S, Temple K, Davis MB, Hanna MG.

J Med Genet. 2009 Nov;46(11):786-91. doi: 10.1136/jmg.2009.067967. Epub 2009 Jul 7.

PMID:
19586927
4.

Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.

Choi KD, Yook JW, Kim MJ, Kim HS, Park YE, Kim JS, Choi JH, Shin JH, Kim DS.

Neurol Sci. 2013 Sep;34(9):1629-32. doi: 10.1007/s10072-013-1298-8. Epub 2013 Jan 24.

PMID:
23344743
5.

Episodic ataxias 1 and 2.

Baloh RW.

Handb Clin Neurol. 2012;103:595-602. doi: 10.1016/B978-0-444-51892-7.00042-5. Review.

PMID:
21827920
6.

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.

Kinder S, Ossig C, Wienecke M, Beyer A, von der Hagen M, Storch A, Smitka M.

Eur J Paediatr Neurol. 2015 Jan;19(1):72-4. doi: 10.1016/j.ejpn.2014.10.005. Epub 2014 Nov 3.

PMID:
25468264
7.

Novel CACNA1A mutation(s) associated with slow saccade velocities.

Kipfer S, Jung S, Lemke JR, Kipfer-Kauer A, Howell JP, Kaelin-Lang A, Nyffeler T, Gutbrod K, Abicht A, Müri RM.

J Neurol. 2013 Dec;260(12):3010-4. doi: 10.1007/s00415-013-7099-4. Epub 2013 Sep 18.

PMID:
24046065
8.

Large CACNA1A deletion in a family with episodic ataxia type 2.

Riant F, Mourtada R, Saugier-Veber P, Tournier-Lasserve E.

Arch Neurol. 2008 Jun;65(6):817-20. doi: 10.1001/archneur.65.6.817.

PMID:
18541804
9.

Identification of CACNA1A large deletions in four patients with episodic ataxia.

Riant F, Lescoat C, Vahedi K, Kaphan E, Toutain A, Soisson T, Wiener-Vacher SR, Tournier-Lasserve E.

Neurogenetics. 2010 Feb;11(1):101-6. doi: 10.1007/s10048-009-0208-y. Epub 2009 Jul 25.

PMID:
19633872
10.

Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.

Choi JH, Seo JD, Choi YR, Kim MJ, Shin JH, Kim JS, Choi KD.

Neurol Sci. 2015 Aug;36(8):1393-6. doi: 10.1007/s10072-015-2157-6. Epub 2015 Mar 18.

PMID:
25784583
11.

Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members.

Kaido M, Furuta M, Nakamori M, Yuasa Y, Takahashi MP.

Rinsho Shinkeigaku. 2016 Apr 28;56(4):260-4. doi: 10.5692/clinicalneurol.cn-000854. Epub 2016 Mar 30. Japanese.

PMID:
27025991
12.

Clinical spectrum of episodic ataxia type 2.

Jen J, Kim GW, Baloh RW.

Neurology. 2004 Jan 13;62(1):17-22.

PMID:
14718690
13.

CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

Robbins MS, Lipton RB, Laureta EC, Grosberg BM.

Headache. 2009 Jul;49(7):1042-6. doi: 10.1111/j.1526-4610.2009.01464.x. Epub 2009 May 27.

PMID:
19486177
14.

[Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case].

Jiang HS, Wang DM, Wang Q, Yang M, Wang W, Pan SY, Hu YF.

Nan Fang Yi Ke Da Xue Xue Bao. 2016 Jun 20;36(7):883-6. Chinese.

PMID:
27435762
15.

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2.

PMID:
20129625
16.

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. doi: 10.1111/j.1468-2982.2009.01958.x. Epub 2010 Feb 1.

PMID:
19624685
17.

Missense CACNA1A mutation causing episodic ataxia type 2.

Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E.

Arch Neurol. 2001 Feb;58(2):292-5.

PMID:
11176968
18.

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

Jen J, Yue Q, Nelson SF, Yu H, Litt M, Nutt J, Baloh RW.

Neurology. 1999 Jul 13;53(1):34-7.

PMID:
10408533
19.

Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

Spacey SD, Materek LA, Szczygielski BI, Bird TD.

Arch Neurol. 2005 Feb;62(2):314-6.

PMID:
15710862
20.

Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.

Maksemous N, Roy B, Smith RA, Griffiths LR.

Mol Genet Genomic Med. 2016 Jan 20;4(2):211-22. doi: 10.1002/mgg3.196. eCollection 2016 Mar.

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