Resumo

APPENDINO, Juan Pablo  e  APPENDINO, Juan Ignacio. Encefalopatías epilépticas determinadas genéticamente. Medicina (B. Aires) [online]. 2019, vol.79, suppl.3, pp.42-47. ISSN 0025-7680.

Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are characterized by severe pharmaco-resistant epilepsy, severely abnormal electroencephalograms, early-age onset, neurocognitve impairment, variable phenotype and usually normal brain MRI. These syndromes are usually genetically determined. A correct and timely diagnosis could help and guide the medical counselling and the correct therapeutic approach improving the short, medium and long term outcomes. In this article we review the electroencephalographic and genetic findings along with the most recommended therapeutic options facilitating the clinical management. We include the following epileptic encephalopathy syndromes: Ohtahara, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West, Dravet, non-progressive myoclonic status, Doose, Lennox-Gastaut, Landau-Kleffner and continuous spike-wave during sleep epilepsy.

Palavras-chave : Epileptic encephalopathy; Etiology; Gene; Treatment; Electroencephalogram.

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