Journal of the Neurological Sciences
Volume 291, Issue 1 , Pages 30-36 , 15 April 2010

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

  • Elide Mantuano

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    • ,
  • Silvia Romano

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Liana Veneziano

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    • ,
  • Cinzia Gellera

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Barbara Castellotti

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Sara Caimi

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Daniela Testa

      Affiliations

    • Unit of Neuropathology, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Margherita Estienne

      Affiliations

    • Child Neurology Dept., Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Giovanna Zorzi

      Affiliations

    • Child Neurology Dept., Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Marianna Bugiani

      Affiliations

    • Child Neurology Dept., Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Yusuf A. Rajabally

      Affiliations

    • University Hospitals of Leicester, UK
    • ,
  • Maria J Garcìa Barcina

      Affiliations

    • Genitiva Unitatea, Basurtuko Ospitalea, Osakidetza, Bilbao, Spain
    • ,
  • Serena Servidei

      Affiliations

    • Department of Neuroscience, Catholic University, Rome, Italy
    • ,
  • Aurora Panico

      Affiliations

    • Servizio di Neurologia-Noale, Venice, Italy
    • ,
  • Marina Frontali

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    • ,
  • Caterina Mariotti

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 02 23942269; fax: +39 02 2664236.

Received 30 September 2009 ,Revised 2 December 2009 ,Accepted 12 January 2010.

To access this article, please choose from the options below

Login to an existing account or Register a new account.

  • Purchase this article for 31.50 USD (You must login/register to purchase this article)

    Online access for 24 hours. The PDF version can be downloaded as your permanent record.

  • Subscribe to this title

    Get unlimited online access to this article and all other articles in this title 24/7 for one year.

  • Claim access now

    For current subscribers with Society Membership or Account Number.

  • Visit SciVerse ScienceDirect to see if you have access via your institution.

PII: S0022-510X(10)00036-5

doi: 10.1016/j.jns.2010.01.010

Journal of the Neurological Sciences
Volume 291, Issue 1 , Pages 30-36 , 15 April 2010

Article Tools

* Image Usage & Resolution