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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Citações na Scopus
10
Tipo de produção
article
Data de publicação
2020
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER
Autores
MONTEIRO, Fabiola Paoli
RAMOS, Luiza
KITAJIMA, Joao Paulo
Citação
BRAIN & DEVELOPMENT, v.42, n.9, p.691-695, 2020
Resumo
Introduction: 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.
Palavras-chave
KCNT2, Epilepsy, Epileptic Encephalopathy
Referências
- Allen NM, 2020, EUR J PAEDIATR NEURO, V24, P105, DOI 10.1016/j.ejpn.2019.12.002
- Ambrosino P, 2018, ANN NEUROL, V83, P1198, DOI 10.1002/ana.25248
- Bartolini E, 2020, NEUROL SCI, V41, P749, DOI 10.1007/s10072-019-04190-x
- Chen HJ, 2009, J NEUROSCI, V29, P5654, DOI 10.1523/JNEUROSCI.5978-08.2009
- Gururaj S, 2017, CELL REP, V21, P926, DOI 10.1016/j.celrep.2017.09.088
- Mao X, 2020, FRONT CELL NEUROSCI, V14, DOI 10.3389/fncel.2020.00001
- Richards S, 2015, GENET MED, V17, P405, DOI 10.1038/gim.2015.30