Novel splice site CACNA1A mutation causing episodic ataxia type 2

Neurogenetics ◽  
2004 ◽  
Vol 5 (1) ◽  
pp. 69-73 ◽  
Author(s):  
P.J. Miettinen ◽  
J. Vesa ◽  
A. Orpana ◽  
A. Palotie ◽  
M. F�rkkil� ◽  
...  
Keyword(s):  
Splice Site ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
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

Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: Hypothesis, family genealogy, gene typing and classification

Cephalalgia ◽  
2009 ◽  
Vol 30 (6) ◽  
pp. 740-743 ◽  
Author(s):  
C Cleves ◽  
S Parikh ◽  
AD Rothner ◽  
SJ Tepper
Keyword(s):  
Gene Mutations ◽  
Episodic Ataxia ◽  
New Classification ◽  
Hemiplegic Migraine ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
The Relationship ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

An association between hemiplegic migraine (HM) and episodic ataxia type 2 (EA2) has been described; both disorders are linked to mutations in the CACNA1A gene. Although confusion occurs in 21% of patients with HM, we found only one case in the literature of confusional episodes associated with ataxia without hemiplegia. These findings raise the possibility of confusional episodes being part of both the HM and EA2 phenotype. However, a patient with episodic ataxia, confusional spells and CACNA1A gene mutations has not been identified. We describe four individuals, spanning three generations of a family, with episodic ataxia without hemiplegia and confusion, in association with a CACNA1A mutation. We follow with a description of the relationship between the CACNA1A mutations and the three syndromes, suggesting a potential need for a new classification in which the conditions can be subsumed.

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

Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation

2009 ◽  
Vol 13 (2) ◽  
pp. 191-193 ◽  
Author(s):  
D.I. Zafeiriou ◽  
F. Lehmann-Horn ◽  
E. Vargiami ◽  
E. Teflioudi ◽  
A. Ververi ◽  
...  
Keyword(s):  
Chronic Diarrhea ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
Cacna1a Mutation

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

2013 ◽  
Vol 34 (9) ◽  
pp. 1629-1632 ◽  
Author(s):  
Kwang-Dong Choi ◽  
Ji-Won Yook ◽  
Min-Ji Kim ◽  
Hyang-Sook Kim ◽  
Young-Eun Park ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Episodic Ataxia ◽  
Site Mutation ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type

scholarly journals Missense CACNA1A Mutation Causing Episodic Ataxia Type 2

2001 ◽  
Vol 58 (2) ◽  
pp. 292 ◽  
Author(s):  
Christian Denier ◽  
Anne Ducros ◽  
Alexandra Durr ◽  
Bruno Eymard ◽  
Bénédicte Chassande ◽  
...  
Keyword(s):  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Episodic Ataxia Type ◽  
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

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
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