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Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

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Abstract

We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht–Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.

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Authors and Affiliations

  1. Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy

    Giovanni Coppola MD, Chiara Criscuolo MD, Giuseppe De Michele MD, Salvatore Striano MD, Fabrizio Barbieri MD, Pasquale Striano MD, Anna Perretti MD, Lucio Santoro MD, Vincenzo Brescia Morra MD, Francesco Saccà MD, Valentina Scarano MD &  Alessandro Filla

  2. Telethon Institute of Genetics and Medicine, Naples, Italy

    Adamo P. D’Adamo BSc, Sandro Banfi MD & Paolo Gasparini MD

  3. La Sapienza University, Rome, Italy

    Filippo M. Santorelli MD

  4. Dept. of Medical Genetics, University of Helsinki, Finland

    Anna E. Lehesjoki MD

Authors
  1. Giovanni Coppola MD
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  2. Chiara Criscuolo MD
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  3. Giuseppe De Michele MD
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  4. Salvatore Striano MD
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  5. Fabrizio Barbieri MD
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  6. Pasquale Striano MD
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  7. Anna Perretti MD
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  8. Lucio Santoro MD
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  9. Vincenzo Brescia Morra MD
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  10. Francesco Saccà MD
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  11. Valentina Scarano MD
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  12. Adamo P. D’Adamo BSc
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  13. Sandro Banfi MD
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  14. Paolo Gasparini MD
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  15. Filippo M. Santorelli MD
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  16. Anna E. Lehesjoki MD
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  17. Alessandro Filla
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Corresponding author

Correspondence to Alessandro Filla.

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Coppola, G., Criscuolo, C., De Michele, G. et al. Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 252, 897–900 (2005). https://doi.org/10.1007/s00415-005-0766-3

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  • DOI: https://doi.org/10.1007/s00415-005-0766-3

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