European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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Eur. J. Paediatr. Neurol. · Mar 2012
ReviewA diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.
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. ⋯ 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.