Epilepsy and episodic ataxia type 2: family study and review of the literature

2021 ◽  
Author(s):  
Lorenzo Verriello ◽  
Giada Pauletto ◽  
Annacarmen Nilo ◽  
Incoronata Lonigro ◽  
Elena Betto ◽  
...  
Keyword(s):  
Family Study ◽  
Episodic Ataxia ◽  
Review Of The Literature ◽  
Episodic Ataxia Type 2 ◽  
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

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

2014 ◽  
Vol 261 (5) ◽  
pp. 983-991 ◽  
Author(s):  
Wolfgang Nachbauer ◽  
Michael Nocker ◽  
Elfriede Karner ◽  
Iva Stankovic ◽  
Iris Unterberger ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Review Of The Literature ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

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

Mouse Models of Episodic Ataxia Type 2

2015 ◽  
pp. 809-814
Author(s):  
Samuel J. Rose ◽  
Ellen J. Hess
Keyword(s):  
Mouse Models ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

scholarly journals Next‐generation sequencing identifies novel CACNA 1A gene mutations in episodic ataxia type 2

2016 ◽  
Vol 4 (2) ◽  
pp. 211-222 ◽  
Author(s):  
Neven Maksemous ◽  
Bishakha Roy ◽  
Robert A. Smith ◽  
Lyn R. Griffiths
Keyword(s):  
Next Generation Sequencing ◽  
Gene Mutations ◽  
Episodic Ataxia ◽  
Next Generation ◽  
Episodic Ataxia Type 2 ◽  
Generation Sequencing ◽  
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
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