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Epilepsy Research and TreatmentVolume20132013, Article ID124934, 20 pages

Review ArticleDepartment of Neurology, Childrens National Medical Center, 111 Michigan Avnue, Washington, DC 20010, USA

Received 22 February 2013; Accepted 16 April 2013

Academic Editor: GiangennaroCoppola

Copyright 2013 Joe Yuezhou Yu and Phillip L. Pearl. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. These may present with various epilepsy phenotypes including refractory neonatal seizures, early myoclonic encephalopathy, early infantile epileptic encephalopathy, infantile spasms, and generalized epilepsies which in particular include myoclonic seizures. There are varying degrees of treatability, but the outcome if untreated can often be catastrophic. The importance of early recognition cannot be overemphasized. This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria and large molecule disorders including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies. Details including key clinical features, salient electrophysiological and neuroradiological findings, biochemical findings, and treatment options are summarized for prominent disorders in each category.

Autor: Joe Yuezhou Yuand Phillip L. Pearl



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