Similar Oculomotor Phenotypes in Episodic Ataxia Type 2 and Spinocerebellar Atrophy Type 6

2006 ◽  
Vol 942 (1) ◽  
pp. 508-509 ◽  
Author(s):  
SARAH H. YING ◽  
JOANNA C. JEN ◽  
ROBERT W. BALOH
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Spinocerebellar Atrophy

scholarly journals Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

2017 ◽  
Vol 161 (1) ◽  
pp. 107-110 ◽  
Author(s):  
Andrea Petrovicova ◽  
Miroslav Brozman ◽  
Egon Kurca ◽  
Tibor Gobo ◽  
Jana Dluha ◽  
...  
Keyword(s):  
Missense Variant ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

2010 ◽  
Vol 64 (2) ◽  
pp. 114-116 ◽  
Author(s):  
Julien Jung ◽  
Hervé Testard ◽  
Elisabeth Tournier-Lasserve ◽  
Florence Riant ◽  
Anne-Evelyne Vallet ◽  
...  
Keyword(s):  
Family Study ◽  
Phenotypic Variability ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

scholarly journals Two Novel CACNA1A Gene Mutations Associated With Episodic Ataxia Type 2 and Interictal Dystonia

2005 ◽  
Vol 62 (2) ◽  
pp. 314 ◽  
Author(s):  
Sian D. Spacey ◽  
Luke A. Materek ◽  
Blajez I. Szczygielski ◽  
Thomas D. Bird
Keyword(s):  
Gene Mutations ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2

2014 ◽  
Vol 13 (3) ◽  
pp. 411-413 ◽  
Author(s):  
Hyo-Jung Kim ◽  
Ji-Soo Kim ◽  
Jae-Hwan Choi ◽  
Jin-Hong Shin ◽  
Kwang-Dong Choi ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Upbeat Nystagmus ◽  
Episodic Ataxia Type

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

2008 ◽  
Vol 32 (1) ◽  
pp. 10-15 ◽  
Author(s):  
Tracey D. Graves ◽  
Paola Imbrici ◽  
Esther E. Kors ◽  
Gisela M. Terwindt ◽  
Louise H. Eunson ◽  
...  
Keyword(s):  
Splice Variant ◽  
Episodic Ataxia ◽  
Stop Codons ◽  
Episodic Ataxia Type 2 ◽  
Ef Hand ◽  
Episodic Ataxia Type

Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2

2017 ◽  
Vol 376 ◽  
pp. 119-120 ◽  
Author(s):  
Štefan Sivák ◽  
Egon Kurča ◽  
Adriána Krajčiová ◽  
Martina Hikkelová ◽  
Juraj Šimko ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Variant ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type
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