Main Article Content

Abstract

Early diagnosis and treatment vitamin and/or cofactor responsive encephalopathies and seizures is critical for both seizure control and cerebral development and to prevent the kindling of intractable seizures with secondary brain injury. Recognition of these specific disorders is key to their management given their essential requirement for specific cofactors and their reduced responsiveness to standard anticonvulsant therapy. The overall goals of this review are; (1) To provide recognition of the clinical phenotypes of selected treatable metabolic etiologies of early-onset encephalopathies with seizures; (2) To highlight the appropriate diagnostic investigations for each, and (3) To  outline the effective treatment strategies. Each condition will be described followed by an approach to vitamin-responsive infantile-onset seizure management. A list of vitamin/cofactor responsive neurological conditions is provided in Table 1.

Keywords

vitamin responsive cofactor responsive encephalopathies epilepsy transporters energy metabolism

Article Details

Author Biography

Ingrid Tein, University of Toronto

Director, Neurometabolic Clinic and Research Laboratory, Division of NeurologyDept. of Pediatrics, Laboratory Medicine and Pathobiology, University of TorontoThe Hospital for Sick Children, 555 University Ave., Toronto, Ontario, Canada  M5G 1X8
How to Cite
Tein, I. (2015). Vitamin and Cofactor Responsive Encephalopathies and Seizures. Journal of the International Child Neurology Association, 1(1). https://doi.org/10.17724/jicna.2015.105

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  100. Cite this article as: Tein I.: Vitamin and cofactor responsive encephalopathies and seizures. JICNA 2015 15:105.

  101. DOI: http://dx.doi.org/10.17724/jicna.2015.105