Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy (2020)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1016/j.braindev.2020.05.003
- Subjects: DOENÇAS CEREBRAIS; EPILEPSIA DO LOBO TEMPORAL; FENÓTIPOS; CANAIS DE POTÁSSIO; ADOLESCENTES
- Language: Inglês
- Imprenta:
- Source:
- Título: Brain & development
- ISSN: 0387-7604
- Volume/Número/Paginação/Ano: v. 42, n. 9, p. 691-695, 2020
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
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ABNT
INUZUKA, Luciana Midori et al. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy. Brain & development, v. 42, n. 9, p. 691-695, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.braindev.2020.05.003. Acesso em: 23 fev. 2026. -
APA
Inuzuka, L. M., Macedo-souza, L. I., Della-ripa, B., Monteiro, F. P., Ramos, L., Kitajima, J. P., et al. (2020). Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy. Brain & development, 42( 9), 691-695. doi:10.1016/j.braindev.2020.05.003 -
NLM
Inuzuka LM, Macedo-souza LI, Della-ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy [Internet]. Brain & development. 2020 ; 42( 9): 691-695.[citado 2026 fev. 23 ] Available from: https://doi.org/10.1016/j.braindev.2020.05.003 -
Vancouver
Inuzuka LM, Macedo-souza LI, Della-ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy [Internet]. Brain & development. 2020 ; 42( 9): 691-695.[citado 2026 fev. 23 ] Available from: https://doi.org/10.1016/j.braindev.2020.05.003 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1016/j.braindev.2020.05.003 (Fonte: oaDOI API)
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