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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2
Joint Authors
Lance, Sean
Mossman, Stuart
Poke, Gemma
Source
Case Reports in Neurological Medicine
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-11
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Lance, Sean& Mossman, Stuart& Poke, Gemma. 2018. A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2. Case Reports in Neurological Medicine،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1145428
Modern Language Association (MLA)
Lance, Sean…[et al.]. A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2. Case Reports in Neurological Medicine No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1145428
American Medical Association (AMA)
Lance, Sean& Mossman, Stuart& Poke, Gemma. A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2. Case Reports in Neurological Medicine. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1145428
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145428