Recent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice

dc.creatorGonsales
dc.creatorMarina C.; Montenegro
dc.creatorMaria Augusta; Soler
dc.creatorCamila V.; Coan
dc.creatorAna Carolina; Guerreiro
dc.creatorMarilisa M.; Lopes-Cendes
dc.creatorIscia
dc.date2015-NOV
dc.date2016-06-07T13:18:40Z
dc.date2016-06-07T13:18:40Z
dc.date.accessioned2018-03-29T01:38:59Z
dc.date.available2018-03-29T01:38:59Z
dc.identifier
dc.identifierRecent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice. Assoc Arquivos Neuro- Psiquiatria, v. 73, p. 946-958 NOV-2015.
dc.identifier0004-282X
dc.identifierWOS:000364331900013
dc.identifier10.1590/0004-282X20150122
dc.identifierhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015001100946&lng=en&nrm=iso&tlng=en
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/242549
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1306247
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionRecent 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.
dc.description73
dc.description11
dc.description
dc.description946
dc.description958
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description
dc.description
dc.description
dc.languageen
dc.publisherASSOC ARQUIVOS NEURO- PSIQUIATRIA
dc.publisher
dc.publisherSAO PAULO SP
dc.relationARQUIVOS DE NEURO-PSIQUIATRIA
dc.rightsfechado
dc.sourceWOS
dc.subjectDe-novo Mutations
dc.subjectMigrating Partial Seizures
dc.subjectElectrical Status Epilepticus
dc.subjectLinked Infantile Spasms
dc.subjectLennox-gastaut Syndrome
dc.subjectSlow-wave Sleep
dc.subjectSevere Intellectual Disability
dc.subjectEarly-onset Encephalopathy
dc.subjectSevere Myoclonic Epilepsy
dc.subjectSevere Mental-retardation
dc.titleRecent Developments In The Genetics Of Childhood Epileptic Encephalopathies: Impact In Clinical Practice
dc.typeArtículos de revistas
dc.typeResumo


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