Journal
JOURNAL OF CLINICAL NEUROSCIENCE
Volume 19, Issue 7, Pages 934-941Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2012.01.017
Keywords
Epileptic encephalopathy; Epilepsy of infancy; Genetic epilepsies; Metabolic encephalopathies; Seizure aetiology
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Epileptic encephalopathies are characterized by frequent severe seizures, and/or prominent interictal epileptiform discharges on the electroencephalogram, developmental delay or deterioration, and usually a poor prognosis. The epileptiform abnormalities themselves are believed to contribute to the progressive disturbance in cerebral function. Determining the underlying aetiology responsible for infantile epileptic encephalopathy is a clinical challenge worth undertaking to facilitate advice on the recurrence risk and to allow for the option of prenatal testing, as often this category of epilepsy is associated with devastating hardship for families. This review takes advantage of recently published studies that have identified new genes associated with epilepsy and focuses on known monogenic causes where detection is useful for the process of genetic counselling. Based on the review, we present a diagnostic work-up in order to triage specific genetic testing for infants presenting with an epileptic encephalopathy. Crown Copyright (C) 2012 Published by Elsevier Ltd. All rights reserved.
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