Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/242549
Type: Artigo
Title: Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice
Author: Gonsales, Marina C.
Montenegro, Maria Augusta
Soler, Camila V.
Coan, Ana Carolina
Guerreiro, Marilisa M.
Lopes-Cendes, Iscia
Abstract: 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.
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 o
Subject: Síndrome de Landau-Kleffner
Country: Brasil
Editor: Associação Arquivos de Neuro-Psiquiatria
Citation: Recent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice. Assoc Arquivos Neuro- Psiquiatria, v. 73, p. 946-958 NOV-2015.
Rights: fechado
Aberto
Identifier DOI: 10.1590/0004-282X20150122
Address: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100946
Date Issue: 2015
Appears in Collections:FCM - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
000364331900013.pdf289.1 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.