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Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

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Title: Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
Authors: Inuzuka LM; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: lminuzuka@gmail.com., Macedo-Souza LI; Department of Neurology, University of São Paulo School of Medicine, Brazil., Della-Ripa B; Department of Neurology, University of São Paulo School of Medicine, Brazil., Monteiro FP; Mendelics Genomic Analysis, São Paulo, Brazil., Ramos L; Mendelics Genomic Analysis, São Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil., Garzon E; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.
Source: Brain & development [Brain Dev] 2020 Oct; Vol. 42 (9), pp. 691-695. Date of Electronic Publication: 2020 Aug 07.
Publication Type: Case Reports; Journal Article
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
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  Data: Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Inuzuka+LM%22">Inuzuka LM</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: lminuzuka@gmail.com.<br /><searchLink fieldCode="AU" term="%22Macedo-Souza+LI%22">Macedo-Souza LI</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Della-Ripa+B%22">Della-Ripa B</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Monteiro+FP%22">Monteiro FP</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Ramos+L%22">Ramos L</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kitajima+JP%22">Kitajima JP</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Garzon+E%22">Garzon E</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.
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  Data: <searchLink fieldCode="JN" term="%227909235%22">Brain & development</searchLink> [Brain Dev] 2020 Oct; Vol. 42 (9), pp. 691-695. <i>Date of Electronic Publication: </i>2020 Aug 07.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7909235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1872-7131 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203877604%22">03877604 </searchLink><i>NLM ISO Abbreviation: </i>Brain Dev <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32773162
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      – Type: doi
        Value: 10.1016/j.braindev.2020.05.003
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      – Code: eng
        Text: English
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      – TitleFull: Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
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            NameFull: Inuzuka LM
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            NameFull: Macedo-Souza LI
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            – D: 01
              M: 10
              Text: 2020 Oct
              Type: published
              Y: 2020
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              Value: 1872-7131
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              Value: 42
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