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Case Reports in Neurological Medicine
Volume 2018, Article ID 5802650, 3 pages
https://doi.org/10.1155/2018/5802650
Case Report

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

Wellington Hospital, Wellington, New Zealand

Correspondence should be addressed to Sean Lance; zn.gro.bhdyellavttuh@ecnal.naes

Received 22 December 2017; Accepted 11 February 2018; Published 11 March 2018

Academic Editor: Majaz Moonis

Copyright © 2018 Sean Lance et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. S. Kipfer and M. Strupp, “The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias,” Movement Disorders Clinical Practice, vol. 1, no. 4, pp. 285–290, 2014. View at Publisher · View at Google Scholar
  2. J. Jen, G. W. Kim, and R. W. Baloh, “Clinical spectrum of episodic ataxia type 2,” Neurology, vol. 62, no. 1, pp. 17–22, 2004. View at Publisher · View at Google Scholar · View at Scopus
  3. J. C. Jen, T. D. Graves, E. J. Hess, M. G. Hanna, R. C. Griggs, and R. W. Baloh, “Primary episodic ataxias: diagnosis, pathogenesis and treatment,” Brain, vol. 130, no. 10, pp. 2484–2493, 2007. View at Publisher · View at Google Scholar · View at Scopus
  4. I. F. A. C. Fokkema, P. E. M. Taschner, G. C. P. Schaafsma, J. Celli, J. F. J. Laros, and J. T. den Dunnen, “LOVD v.2.0: the next generation in gene variant databases,” Human Mutation, vol. 32, no. 5, pp. 557–563, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. K. Bürk, F. J. Kaiser, S. Tennstedt et al., “A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression,” European Journal of Medical Genetics, vol. 57, no. 5, pp. 207–211, 2014. View at Publisher · View at Google Scholar · View at Scopus
  6. Š. Sivák, E. Kurča, A. Krajčiová et al., “Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2,” Journal of the Neurological Sciences, vol. 376, pp. 119-120, 2017. View at Publisher · View at Google Scholar · View at Scopus
  7. A. Petrovicova, M. Brozman, E. Kurca et al., “Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2,” Biomedical Papers, vol. 161, no. 1, pp. 107–110, 2017. View at Publisher · View at Google Scholar
  8. L. Pradotto, M. Mencarelli, M. Bigoni, A. Milesi, A. Di Blasio, and A. Mauro, “Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation,” Journal of the Neurological Sciences, vol. 371, pp. 81–84, 2016. View at Publisher · View at Google Scholar · View at Scopus
  9. K. Reinson, E. Õiglane-Shlik, I. Talvik et al., “Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy,” American Journal of Medical Genetics Part A, vol. 170, no. 8, pp. 2173–2176, 2016. View at Publisher · View at Google Scholar · View at Scopus
  10. N. Maksemous, B. Roy, R. A. Smith, and L. R. Griffiths, “Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2,” Molecular Genetics & Genomic Medicine, vol. 4, no. 2, pp. 211–222, 2016. View at Publisher · View at Google Scholar