Artículos de revistas
Recent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice
Registro en:
Recent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice. Assoc Arquivos Neuro- Psiquiatria, v. 73, p. 946-958 NOV-2015.
0004-282X
WOS:000364331900013
10.1590/0004-282X20150122
Autor
Gonsales
Marina C.; Montenegro
Maria Augusta; Soler
Camila V.; Coan
Ana Carolina; Guerreiro
Marilisa M.; Lopes-Cendes
Iscia
Institución
Resumen
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) 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. 73 11
946 958 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)