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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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Bibliographic Details
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
Description
ISSN:1872-7131
DOI:10.1016/j.braindev.2020.05.003