Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family-Reference-Cited by-同舟云学术

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Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

Published:2008-09-03 Issue:10 Volume:255 Page:1600-1602
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Roubertie A.,Echenne B.,Leydet J.,Soete S.,Krams B.,Rivier F.,Riant F.,Tournier-Lasserve E.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-008-0982-8.pdf

Reference13 articles.

1. Drigo P, Carli G, Laverda AM (2000) Benign paroxysmal torticollis of infancy. Brain Dev 22:169–172

2. Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E (2001) The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med 345:17–24

3. Echenne B, Rivier F (1992) Benign paroxysmal tonic upward gaze. Pediatr Neurol 8:154–155

4. Frischmeyer PA, van Hoof A, O’Donnell K, Guerrerion AL, Parker AL, Doetz HC (2002) An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295:2258–2261

5. Giffin NJ, Benton S, Goadsby PJ (2002) Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 44:490–493

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1. Pearls & Oy-sters: CACNA1A -Related Paroxysmal Tonic Upgaze With Ataxia Responsive to Acetazolamide;Neurology;2024-01-09

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3. Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G;Pediatric Neurology;2023-02

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