Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice

Arquivos de Neuro-Psiquiatria

Marina C. Gonsales¹  Maria Augusta Montenegro¹  Camila V. Soler¹  Ana Carolina Coan¹  Marilisa M. Guerreiro¹  Iscia Lopes-cendes¹ 

关键词: Dravet syndrome;    Ohtahara syndrome;    West syndrome;    Lennox-Gastaut syndrome;    Doose syndrome;    Landau-Kleffner syndrome;    síndrome de Dravet;    síndrome de Ohtahara;    síndrome de West;    síndrome de Lennox-Gastaut;    síndrome de Doose;    síndrome de Landau-Kleffner;   

DOI  :  10.1590/0004-282X20150122

来源: SciELO

【 摘 要 】

Recent advances in molecular genetics led to the discovery of several genes for childhood epileptic encephalopathies (CEEs). As the knowledge about the genes associated with this group of disorders develops, it becomes evident that CEEs present a number of specific genetic characteristics, which will influence the use of molecular testing for clinical purposes. Among these, there are the presence of marked genetic heterogeneity and the high frequency of de novo mutations. Therefore, the main objectives of this review paper are to present and discuss current knowledge regarding i) new genetic findings in CEEs, ii) phenotype-genotype correlations in different forms of CEEs; and, most importantly, iii) the impact of these new findings in clinical practice. Accompanying this text we have included a comprehensive table, containing the list of genes currently known to be involved in the etiology of CEEs.

【 授权许可】

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