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Epilepsy and inborn errors of metabolism in adults: A diagnostic approach

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Journal of Inherited Metabolic Disease

Summary

Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons: some IEMs respond to specific treatments, some antiepileptic drugs interfering with metabolic pathways may worsen the clinical condition, and specific genetic counselling can be provided. We review IEMs potentially revealed by epilepsy that can be encountered in an adult neurology department. We distinguished progressive myoclonic epilepsies (observed in some lysosomal storage diseases, respiratory chain disorders and Lafora disease), from other forms of epilepsies (observed in disorders of intermediary metabolism, including porphyrias, creatine metabolism defects, glucose transporter (GLUT-1) deficiency, Wilson disease or succinic semialdehyde dehydrogenase deficiency). We propose a diagnostic approach and point out clinical, radiological and electrophysiological features that suggest an IEM in an epileptic patient.

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Authors and Affiliations

  1. Federation of Nervous System Diseases, Reference Center for Lysosomal Diseases, The Salpêtrière Hospital, Pierre et Marie Curie University, Paris, France

    F. Sedel & O. Lyon-Caen

  2. AP-HP, Epilepsy Unit, Reference Center of Rare Epilepsies, The Salpêtrière Hospital, Pierre et Marie Curie University, Paris, France

    I. Gourfinkel-An, M. Baulac & V. Navarro

  3. Department of Pediatrics and Metabolic Diseases, Reference Center for Metabolic Diseases, Necker-enfants malades Hospital, René-Descartes University, Assistance Publique-Hôpitaux de Paris, Paris, France

    J.-M. Saudubray

  4. Federation of Nervous System Diseases, Salpêtrière Hospital, 47 Boulevard de l’Hôpital, 75651, Paris cedex 13, France

    F. Sedel

Authors
  1. F. Sedel
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  2. I. Gourfinkel-An
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  3. O. Lyon-Caen
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  4. M. Baulac
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  5. J.-M. Saudubray
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  6. V. Navarro
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Correspondence to F. Sedel.

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Communicating editor: Michael Gibson

Competing interests: None declared

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Sedel, F., Gourfinkel-An, I., Lyon-Caen, O. et al. Epilepsy and inborn errors of metabolism in adults: A diagnostic approach. J Inherit Metab Dis 30, 846–854 (2007). https://doi.org/10.1007/s10545-007-0723-7

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  • DOI: https://doi.org/10.1007/s10545-007-0723-7

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