Metabolic Causes of Epileptic Encephalopathy
Joint Authors
Pearl, Phillip L.
Yu, Joe Yuezhou
Source
Epilepsy Research and Treatment
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-20, 20 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-05-22
Country of Publication
Egypt
No. of Pages
20
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Yu, Joe Yuezhou& Pearl, Phillip L.. 2013. Metabolic Causes of Epileptic Encephalopathy. Epilepsy Research and Treatment،Vol. 2013, no. 2013, pp.1-20.
https://search.emarefa.net/detail/BIM-447554
Modern Language Association (MLA)
Yu, Joe Yuezhou& Pearl, Phillip L.. Metabolic Causes of Epileptic Encephalopathy. Epilepsy Research and Treatment No. 2013 (2013), pp.1-20.
https://search.emarefa.net/detail/BIM-447554
American Medical Association (AMA)
Yu, Joe Yuezhou& Pearl, Phillip L.. Metabolic Causes of Epileptic Encephalopathy. Epilepsy Research and Treatment. 2013. Vol. 2013, no. 2013, pp.1-20.
https://search.emarefa.net/detail/BIM-447554
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-447554