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Eur J Paediatr Neurol. 2012 Mar;16(2):179-91. doi: 10.1016/j.ejpn.2011.07.015. Epub 2011 Sep 21.

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.

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Division of Child Neurology, Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, via dei Sabelli 108, 00185 Roma, Italy.


Early onset epileptic encephalopathies represent a struggling challenge in neurological clinical practice, mostly in infants and very young children, partly due to an unclear and still debated cathegorization. In this scenario genetic and metabolic epileptic encephalopathies play a central role, with new entries still needing an arrangement. In this Paper we present a brief overview on genes, metabolic disorders and syndromes picturing the pathogenesis of genetic and metabolic epileptic encephalopathies with onset under one year of age. These forms will be classified, according to a combined clinical and genetic-metabolic criterion, into two main groups including seizures as prominent/unique symptom and seizures associated with a syndromic phenotype. Starting from this classification we suggest a possible simplified diagnostic algorithm, discussing main decision making nodes in practical patients management. The aim of the proposed algorithm is to guide through metabolic and molecular-genetic work up and to clarify "where" and "what" to search in biochemical, electroencephalographic and neuroimaging investigations.

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