Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/35994
Title: Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
Authors: INUZUKA, Luciana MidoriMACEDO-SOUZA, Lucia InesDELLA-RIPA, BrunoCABRAL, Katiane S. S.MONTEIRO, FabiolaKITAJIMA, Joao PauloGODOY, Luis Filipe de SouzaDELGADO, Daniel de SouzaKOK, FernandoGARZON, Eliana
Citation: BRAIN & DEVELOPMENT, v.42, n.2, p.211-216, 2020
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.
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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