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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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorINUZUKA, Luciana Midori
dc.contributor.authorMACEDO-SOUZA, Lucia Ines
dc.contributor.authorDELLA-RIPA, Bruno
dc.contributor.authorMONTEIRO, Fabiola Paoli
dc.contributor.authorRAMOS, Luiza
dc.contributor.authorKITAJIMA, Joao Paulo
dc.contributor.authorGARZON, Eliana
dc.contributor.authorKOK, Fernando
dc.date.accessioned2020-10-15T14:36:23Z
dc.date.available2020-10-15T14:36:23Z
dc.date.issued2020
dc.description.abstractIntroduction: KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. Case report: We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene. Discussion: Whole exome sequencing identified the missense variant c.725C > A p.(Thr242Asn), which was confirmed by Sanger sequencing. Our patient has a refractory stereotyped and monomorphic type of hyperkinetic focal motor seizure, similar to what is seen in frontal lobe epilepsy, occurring only during sleep. This type of seizure is not usually seen in epileptic encephalopathies.eng
dc.description.indexMEDLINEeng
dc.identifier.citationBRAIN & DEVELOPMENT, v.42, n.9, p.691-695, 2020
dc.identifier.doi10.1016/j.braindev.2020.05.003
dc.identifier.eissn1872-7131
dc.identifier.issn0387-7604
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/37782
dc.language.isoeng
dc.publisherELSEVIEReng
dc.relation.ispartofBrain & Development
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright ELSEVIEReng
dc.subjectKCNT2eng
dc.subjectEpilepsyeng
dc.subjectEpileptic Encephalopathyeng
dc.subject.wosClinical Neurologyeng
dc.subject.wosPediatricseng
dc.titleAdditional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsyeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.author.externalMONTEIRO, Fabiola Paoli:Mendel Genom Anal, Sao Paulo, Brazil
hcfmusp.author.externalRAMOS, Luiza:Mendel Genom Anal, Sao Paulo, Brazil
hcfmusp.author.externalKITAJIMA, Joao Paulo:Mendel Genom Anal, Sao Paulo, Brazil
hcfmusp.citation.scopus10
hcfmusp.contributor.author-fmusphcLUCIANA MIDORI INUZUKA NAKAHARADA
hcfmusp.contributor.author-fmusphcLUCIA INES MACEDO DE SOUZA
hcfmusp.contributor.author-fmusphcBRUNO DELLA RIPA RODRIGUES ASSIS
hcfmusp.contributor.author-fmusphcELIANA GARZON
hcfmusp.contributor.author-fmusphcFERNANDO KOK
hcfmusp.description.beginpage691
hcfmusp.description.endpage695
hcfmusp.description.issue9
hcfmusp.description.volume42
hcfmusp.origemWOS
hcfmusp.origem.pubmed32773162
hcfmusp.origem.scopus2-s2.0-85089146778
hcfmusp.origem.wosWOS:000567511700008
hcfmusp.publisher.cityAMSTERDAMeng
hcfmusp.publisher.countryNETHERLANDSeng
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hcfmusp.scopus.lastupdate2024-05-10
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