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

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References

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

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  6. Gordon N (1998) Episodic ataxia and channelopathies. Brain Dev 20:9–13

    Article  PubMed  CAS  Google Scholar 

  7. Jen J, Kim GW, Baloh RW (2004) Clinical spectrum of episodic ataxia type 2. Neurology 62:17–22

    PubMed  CAS  Google Scholar 

  8. Mori Y, Friedrich T, Kim MS, Mikami A, Nakai J, Ruth P, Bosse E, Hofmann F, Flockerzi V, Furuichi T, Mikoshiba K, Keiji Imoto K, Tanabe T, Numa S (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350:398–402

    Article  PubMed  CAS  Google Scholar 

  9. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrebweiser HW, Bulman DE, Ferrari M, haan J, Lindhout D, Van Ommen, GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87:543–552

    Article  PubMed  CAS  Google Scholar 

  10. Ouvrier RA, Billson F (1988) Benign paroxysmal tonic upgaze of childhood. J Child Neurol 3:177–180

    Article  PubMed  CAS  Google Scholar 

  11. Ouvrier RA, Billson F (2005) Paroxysmal tonic upgaze of childhood – a review. Brain Dev 27:185–188

    Article  PubMed  Google Scholar 

  12. van den Maagdenberg AM, Pietrobon D, Pizzorusso T, Kaja S, Broos LA, Cesetti T, Van de Ven RC, Tottene A, van der Kaa J, Plomp JJ, Frants RR, Ferrari MD (2004) A CACNA1A knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron 41:701–710

    Article  PubMed  CAS  Google Scholar 

  13. Zhuchenko O, Bayley J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Le CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansion in the alpha 1A-voltage-dependant calcium channel. Nat Genet 15:62–69

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Service de Neuropédiatrie, Hôpital Gui de Chauliac, 80 Avenue Augustin Fliche, 34980, Montpellier Cedex 5, France

    A. Roubertie MD, PhD, B. Echenne MD, J. Leydet MD, S. Soete MD, B. Krams MD & F. Rivier MD, PhD

  2. Laboratoire de Génétique Moléculaire, Hôpital Lariboisière AP-HP, Paris, France

    F. Riant MD & E. Tournier-Lasserve MD

  3. INSERM, U-740, 10 avenue de Verdun, Paris, France

    F. Riant MD & E. Tournier-Lasserve MD

  4. Université Paris 7 Denis Diderot, Paris, France

    E. Tournier-Lasserve MD

Authors
  1. A. Roubertie MD, PhD
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  2. B. Echenne MD
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  3. J. Leydet MD
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  4. S. Soete MD
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  5. B. Krams MD
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  6. F. Rivier MD, PhD
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  7. F. Riant MD
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  8. E. Tournier-Lasserve MD
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Corresponding author

Correspondence to A. Roubertie MD, PhD.

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Roubertie, A., Echenne, B., Leydet, J. et al. Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol 255, 1600–1602 (2008). https://doi.org/10.1007/s00415-008-0982-8

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  • DOI: https://doi.org/10.1007/s00415-008-0982-8

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