Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients

Detalhes bibliográficos
Autor(a) principal: Ermel, Erica Leitão
Data de Publicação: 2013
Outros Autores: Carneiro, Lauriane Caroline, Souza, Carolina Fischinger Moura de, Crippa, Ana Chrystina de Souza, Sanseverino, Maria Teresa Vieira, Raskin, Salmo
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/80061
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spelling Ermel, Erica LeitãoCarneiro, Lauriane CarolineSouza, Carolina Fischinger Moura deCrippa, Ana Chrystina de SouzaSanseverino, Maria Teresa VieiraRaskin, Salmo2013-11-07T01:47:10Z20130004-282Xhttp://hdl.handle.net/10183/80061000904319application/pdfengArquivos de neuro-psiquiatria. Vol. 71, no. 6 (jun. 2013), p. 414-415Epilepsias mioclônicasEncefalopatiasSíndrome de RettEpileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patientsEncefalopatia epilética e síndrome de Rett atípica por mutações no gene CDKL5 : caracterização clínica e molecular de dois casos brasileirosinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000904319.pdf000904319.pdfTexto completo (inglês)application/pdf505750http://www.lume.ufrgs.br/bitstream/10183/80061/1/000904319.pdf67d724fd0879bea5f1ed0e559403ba7dMD51TEXT000904319.pdf.txt000904319.pdf.txtExtracted Texttext/plain5907http://www.lume.ufrgs.br/bitstream/10183/80061/2/000904319.pdf.txt8c101fd0896d59c627da97680c5bfbe4MD52THUMBNAIL000904319.pdf.jpg000904319.pdf.jpgGenerated Thumbnailimage/jpeg2103http://www.lume.ufrgs.br/bitstream/10183/80061/3/000904319.pdf.jpg1615c45e558ce892463e73b2153c8cf5MD5310183/800612023-06-02 03:29:37.018148oai:www.lume.ufrgs.br:10183/80061Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-06-02T06:29:37Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
dc.title.alternative.pt.fl_str_mv Encefalopatia epilética e síndrome de Rett atípica por mutações no gene CDKL5 : caracterização clínica e molecular de dois casos brasileiros
title Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
spellingShingle Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
Ermel, Erica Leitão
Epilepsias mioclônicas
Encefalopatias
Síndrome de Rett
title_short Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
title_full Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
title_fullStr Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
title_full_unstemmed Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
title_sort Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5 : clinical and molecular characterization of two Brazilian patients
author Ermel, Erica Leitão
author_facet Ermel, Erica Leitão
Carneiro, Lauriane Caroline
Souza, Carolina Fischinger Moura de
Crippa, Ana Chrystina de Souza
Sanseverino, Maria Teresa Vieira
Raskin, Salmo
author_role author
author2 Carneiro, Lauriane Caroline
Souza, Carolina Fischinger Moura de
Crippa, Ana Chrystina de Souza
Sanseverino, Maria Teresa Vieira
Raskin, Salmo
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Ermel, Erica Leitão
Carneiro, Lauriane Caroline
Souza, Carolina Fischinger Moura de
Crippa, Ana Chrystina de Souza
Sanseverino, Maria Teresa Vieira
Raskin, Salmo
dc.subject.por.fl_str_mv Epilepsias mioclônicas
Encefalopatias
Síndrome de Rett
topic Epilepsias mioclônicas
Encefalopatias
Síndrome de Rett
publishDate 2013
dc.date.accessioned.fl_str_mv 2013-11-07T01:47:10Z
dc.date.issued.fl_str_mv 2013
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Arquivos de neuro-psiquiatria. Vol. 71, no. 6 (jun. 2013), p. 414-415
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