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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | |
dc.contributor.author | INUZUKA, Luciana Midori | |
dc.contributor.author | MACEDO-SOUZA, Lucia Ines | |
dc.contributor.author | DELLA-RIPA, Bruno | |
dc.contributor.author | CABRAL, Katiane S. S. | |
dc.contributor.author | MONTEIRO, Fabiola | |
dc.contributor.author | KITAJIMA, Joao Paulo | |
dc.contributor.author | GODOY, Luis Filipe de Souza | |
dc.contributor.author | DELGADO, Daniel de Souza | |
dc.contributor.author | KOK, Fernando | |
dc.contributor.author | GARZON, Eliana | |
dc.date.accessioned | 2020-06-01T14:53:51Z | - |
dc.date.available | 2020-06-01T14:53:51Z | - |
dc.date.issued | 2020 | |
dc.identifier.citation | BRAIN & DEVELOPMENT, v.42, n.2, p.211-216, 2020 | |
dc.identifier.issn | 0387-7604 | |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/35994 | - |
dc.description.abstract | SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction. | eng |
dc.language.iso | eng | |
dc.publisher | ELSEVIER | eng |
dc.relation.ispartof | Brain & Development | |
dc.rights | restrictedAccess | eng |
dc.subject | SCN3A | eng |
dc.subject | Epilepsy | eng |
dc.subject | Epileptic encephalopathy | eng |
dc.subject | Polymicrogyria | eng |
dc.subject.other | scn3a | eng |
dc.subject.other | mutation | eng |
dc.title | Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature | eng |
dc.type | article | eng |
dc.rights.holder | Copyright ELSEVIER | eng |
dc.identifier.doi | 10.1016/j.braindev.2019.09.004 | |
dc.identifier.pmid | 31677917 | |
dc.subject.wos | Clinical Neurology | eng |
dc.type.category | original article | eng |
dc.type.version | publishedVersion | eng |
hcfmusp.author.external | MONTEIRO, Fabiola:Mendel Genom Anal, Sao Paulo, Brazil | |
hcfmusp.author.external | KITAJIMA, Joao Paulo:Mendel Genom Anal, Sao Paulo, Brazil | |
hcfmusp.author.external | GODOY, Luis Filipe de Souza:Hosp Sirio Libanes, Radiol Dept, Sao Paulo, Brazil | |
hcfmusp.author.external | DELGADO, Daniel de Souza:Hosp Sirio Libanes, Radiol Dept, Sao Paulo, Brazil | |
hcfmusp.description.beginpage | 211 | |
hcfmusp.description.endpage | 216 | |
hcfmusp.description.issue | 2 | |
hcfmusp.description.volume | 42 | |
hcfmusp.origem | WOS | |
hcfmusp.origem.id | WOS:000517852300015 | |
hcfmusp.origem.id | 2-s2.0-85074477987 | |
hcfmusp.publisher.city | AMSTERDAM | eng |
hcfmusp.publisher.country | NETHERLANDS | eng |
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hcfmusp.relation.reference | Vanoye CG, 2014, NEUROBIOL DIS, V62, P313, DOI 10.1016/j.nbd.2013.10.015 | eng |
hcfmusp.relation.reference | Wang YM, 2017, SCI REP-UK, V7, DOI 10.1038/srep40319 | eng |
hcfmusp.relation.reference | Zaman T, 2018, ANN NEUROL, V83, P703, DOI 10.1002/ana.25188 | eng |
dc.description.index | MEDLINE | eng |
dc.identifier.eissn | 1872-7131 | |
hcfmusp.citation.scopus | 12 | - |
hcfmusp.scopus.lastupdate | 2024-03-29 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MNE Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/15 Artigos e Materiais de Revistas Científicas - LIM/45 |
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art_INUZUKA_Neurodevelopmental_disorder_associated_with_de_novo_SCN3A_pathogenic_2020.PDF Restricted Access | publishedVersion (English) | 1.28 MB | Adobe PDF | View/Open Request a copy |
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