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Epilepsy: old syndromes, new genes

Weckhuysen, Sarah
Published in Current Neurology and Neuroscience Reports. 2014, vol. 14, no. 6, p. 447
Abstract Next-generation sequencing technologies have tremendously increased the speed of gene discovery in monogenic epilepsies, enabling us to identify a genetic cause in an increasing proportion of patients, and to better understand the underlying pathophysiology of their disease. The rapid speed with which new genes are being described lately, confronts clinicians with the difficult task of keeping up to date with the continuous supply of new publications. This article aims to discuss some of the genes that were recently discovered in monogenic familial epilepsy syndromes or epileptic encephalopathies for which an underlying cause remained unknown for a long time.
Keywords Epilepsy/geneticsHumansMutation
PMID: 24740805
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WECKHUYSEN, Sarah, KORFF, Christian. Epilepsy: old syndromes, new genes. In: Current Neurology and Neuroscience Reports, 2014, vol. 14, n° 6, p. 447. https://archive-ouverte.unige.ch/unige:48452

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Deposited on : 2015-03-26

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