cacna1a mutation
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A case of novel CACNA1A mutation causing type 2 episodic ataxia

2021 ◽  
Author(s):  
Pretty Sara Idiculla ◽  
Junaid Habib Siddiqui
Keyword(s):  
Episodic Ataxia ◽  
Cacna1a Mutation

Familial “Diplegic” Migraine – Description of a Family With a Novel CACNA1A Mutation

2020 ◽  
Vol 60 (3) ◽  
pp. 600-606 ◽  
Author(s):  
Adam S. Sprouse Blum ◽  
Cody J. Couperus ◽  
Brian J. Rosen ◽  
Leanne F. Haskin‐Leahy ◽  
Robert E. Shapiro
Keyword(s):  
Cacna1a Mutation

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing

2019 ◽  
Vol 41 (10) ◽  
pp. 905-909
Author(s):  
Ayaka Hirasawa-Inoue ◽  
Akihiko Ishiyama ◽  
Eri Takeshita ◽  
Yuko Shimizu-Motohashi ◽  
Takashi Saito ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Potential Role ◽  
Single Fiber ◽  
Whole Exome ◽  
Cacna1a Mutation

scholarly journals A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2

2018 ◽  
Vol 17 (4) ◽  
pp. 504-506
Author(s):  
Alexander Balck ◽  
Sinem Tunc ◽  
Johanna Schmitz ◽  
Ronja Hollstein ◽  
Frank J. Kaiser ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis

2018 ◽  
Vol 118 (1) ◽  
pp. 137-139
Author(s):  
Donghwi Park ◽  
Sung-Hee Kim ◽  
Yun Jeong Lee ◽  
Gyun-Jee Song ◽  
Jin-Sung Park
Keyword(s):  
Periodic Paralysis ◽  
Episodic Ataxia ◽  
Cacna1a Mutation

Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation

2017 ◽  
Vol 381 ◽  
pp. 4-6 ◽  
Author(s):  
Mitsunori Shimmura ◽  
Taira Uehara ◽  
Kenichiro Yamashita ◽  
Hiroshi Shigeto ◽  
Ryo Yamasaki ◽  
...  
Keyword(s):  
Eye Movement ◽  
Smooth Pursuit ◽  
Episodic Ataxia ◽  
Smooth Pursuit Eye Movement ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation
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