scholarly journals Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family

2006 ◽  
Vol 2 (4) ◽  
pp. 268 ◽  
Author(s):  
Jeong-Min Kim ◽  
Ji Soo Kim ◽  
Chang-Seok Ki ◽  
Beom-Seok Jeon
Keyword(s):  
Deletion Mutation ◽  
Episodic Ataxia ◽  
Korean Family ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
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 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

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

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

2009 ◽  
Vol 280 (1-2) ◽  
pp. 10-14 ◽  
Author(s):  
Ester Cuenca-León ◽  
Isabel Banchs ◽  
Selma A. Serra ◽  
Pilar Latorre ◽  
Noèlia Fernàndez-Castillo ◽  
...  
Keyword(s):  
Late Onset ◽  
Episodic Ataxia ◽  
Loss Of Function ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

A family of episodic ataxia type 2: No evidence of genetic linkage to the CACNA1A gene

2003 ◽  
Author(s):  
Hiroyuki Hirose ◽  
Takashi Arayama ◽  
Junko Takita ◽  
Takashi Igarashi ◽  
Yasuhide Hayashi ◽  
...  
Keyword(s):  
Genetic Linkage ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

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.

Two sporadic cases of episodic ataxia type 2 with CACNA1A gene mutations

2017 ◽  
Vol 381 ◽  
pp. 660
Author(s):  
H. Shimazaki ◽  
T. Mashiko ◽  
Y. Kim ◽  
T. Ozawa ◽  
R. Koide ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
Sporadic Cases ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

scholarly journals A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Sean Lance ◽  
Stuart Mossman ◽  
Gemma Poke
Keyword(s):  
Diagnostic Yield ◽  
Episodic Ataxia ◽  
Heterogenous Group ◽  
Episodic Ataxia Type 2 ◽  
Typical History ◽  
Novel Variant ◽  
History Of ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2) is the most common and also has the largest number of identified causative genetic variants. Treatment with acetazolamide is effective in improving symptoms, so accurate diagnosis is essential. However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. Report of such variations is important in learning more about the disease and improving diagnostic yield for the patient.

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