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Ocular Manifestation of CACNA1A Pathogenic Variants Cover

Ocular Manifestation of CACNA1A Pathogenic Variants

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Open Access
|Dec 2016

References

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  3. Roubertie A Echenne B Leydet J Soete S Krams B Rivier F Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family J Neurol 2008 Oct 255 10 1600 2 10.1007/s00415-008-0982-8 18758887
  4. Christova P Anderson JH Gomez CM Impaired eye movements in presymptomatic spinocerebellar ataxia type 6 Arch Neurol 2008 Apr 65 4 530 6 10.1001/archneur.65.4.530 18413478
  5. Reinson K Õiglane-Shlik E Talvik I Vaher U Õunapuu A Ennok M Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy Am J Med Genet A 2016 Aug 170 8 2173 6 10.1002/ajmg.a.37678 27250579
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Language: English
Page range: 46 - 46
Submitted on: Sep 19, 2016
Accepted on: Oct 11, 2016
Published on: Dec 1, 2016
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2016 Karit Reinson, Katrin Õunap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.