Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice
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 wil...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2015-11-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100946&lng=en&tlng=en |
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| author | Marina C. Gonsales Maria Augusta Montenegro Camila V. Soler Ana Carolina Coan Marilisa M. Guerreiro Iscia Lopes-Cendes |
| author_facet | Marina C. Gonsales Maria Augusta Montenegro Camila V. Soler Ana Carolina Coan Marilisa M. Guerreiro Iscia Lopes-Cendes |
| author_sort | Marina C. Gonsales |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2d9d8ca9a57342ecb7f0fde249dacca4 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2015-11-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-2d9d8ca9a57342ecb7f0fde249dacca42025-08-20T02:24:04ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272015-11-01731194695810.1590/0004-282X20150122S0004-282X2015001100946Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceMarina C. GonsalesMaria Augusta MontenegroCamila V. SolerAna Carolina CoanMarilisa M. GuerreiroIscia Lopes-CendesRecent 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100946&lng=en&tlng=ensíndrome de Dravetsíndrome de Ohtaharasíndrome de Westsíndrome de Lennox-Gastautsíndrome de Doosesíndrome de Landau-Kleffner |
| spellingShingle | Marina C. Gonsales Maria Augusta Montenegro Camila V. Soler Ana Carolina Coan Marilisa M. Guerreiro Iscia Lopes-Cendes Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Arquivos de Neuro-Psiquiatria síndrome de Dravet síndrome de Ohtahara síndrome de West síndrome de Lennox-Gastaut síndrome de Doose síndrome de Landau-Kleffner |
| title | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| title_full | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| title_fullStr | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| title_full_unstemmed | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| title_short | Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice |
| title_sort | recent developments in the genetics of childhood epileptic encephalopathies impact in clinical practice |
| topic | síndrome de Dravet síndrome de Ohtahara síndrome de West síndrome de Lennox-Gastaut síndrome de Doose síndrome de Landau-Kleffner |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100946&lng=en&tlng=en |
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