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Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

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Bibliographic Details
Title: Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.
Authors: Inuzuka LM; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: luciana.minakaharada@hsl.org.br., Macedo-Souza LI; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: ines.genetica@gmail.com., Della-Ripa B; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: bruno.dellaripa@inisp.com.br., Cabral KSS; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: kate_souza@yahoo.com.br., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: fabiola.monteiro@mendelics.com.br., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: joao.kitajima@mendelics.com.br., de Souza Godoy LF; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: fil.godoy@gmail.com., de Souza Delgado D; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: ds.delgado64@gmail.com., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: fernando.kok@mendelics.com.br., Garzon E; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: eliana.garzon@inisp.com.br.
Source: Brain & development [Brain Dev] 2020 Feb; Vol. 42 (2), pp. 211-216. Date of Electronic Publication: 2019 Oct 31.
Publication Type: Case Reports; Journal Article; Review
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1872-7131
DOI:10.1016/j.braindev.2019.09.004