Episodic Ataxia Type 1 and Type 2

2012 ◽  
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type

Episodic Ataxia Type 1 and Type 2

2009 ◽  
pp. 602-603
Author(s):  
Kei Inai ◽  
Alexander K. C. Leung ◽  
Jouni Uitto ◽  
Gerhard-Paul Diller ◽  
Michael A. Gatzoulis ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type

A NOVEL KCNA1 MUTATION CAUSES EPISODIC ATAXIA TYPE 1 WITH PERSISTENT CEREBELLAR DEFICITS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
M Demos ◽  
K Farrell ◽  
T Nelson ◽  
K Chapman ◽  
L Armstrong
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type

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

scholarly journals A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

2021 ◽  
Vol 17 (2) ◽  
pp. 333
Author(s):  
Geum Bong Lee ◽  
Ga Yeon Kim ◽  
In Hwa Jeong ◽  
Namhee Kim ◽  
Jae Woo Kim
Keyword(s):  
Episodic Ataxia ◽  
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 Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype

2017 ◽  
Vol 4 (5) ◽  
pp. 784-786 ◽  
Author(s):  
Kallol K. Set ◽  
Debabrata Ghosh ◽  
A.H.M. Huq ◽  
Aimee F. Luat
Keyword(s):  
Episodic Ataxia ◽  
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

Interictal headache, pseudodystonia, and persistent ataxia in episodic ataxia type 1 due to a novel KCNA1 gene mutation

2021 ◽  
Author(s):  
Shakya Bhattacharjee ◽  
Anu Deenadayalu ◽  
Vijayashankar Paramanandam
Keyword(s):  
Gene Mutation ◽  
Episodic Ataxia ◽  
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
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