July 1, 2014: Genetic testing in early-onset epileptic encephalopathies

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July 1, 2014

An early-onset epileptic encephalopathy manifests in the neonatal or early infantile age group with severe delays in cognitive and motor developmental, felt attributable in part to frequent seizures or interictal epileptiform activity (1). After a workup for cerebral structural abnormalities and inborn errors of metabolism, genetic testing has become an important diagnostic tool in the evaluation of these disorders (2). Causes of early-onset epileptic encephalopathy have been expanded with the commercialization of high-throughput gene sequencing and gene panels, as well as whole exome sequencing. Phenotypic characterization, with dysmorphology, seizure semiology, and EEG can help identify particular syndromes and tailor which genetic testing is offered (2). 


  1. Berg, Anne; Berkovic, Samuel; Brodie, Martin; et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676-685.
  2. Mastrangelo, Maria; Celato, Andrea; Leuzzi, Vincenzo. A diagnostic algorithm for the evaluation of genetic-metabolic epileptic encephalopathies. Eur J Paediatr Neurol 2012;16:179-191

Submitted by: Adam Numis, MD
Dr. Numis is a member of the Resident and Fellow Section of Neurology

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