Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy (2020)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1093/brain/awaa085
- Subjects: FENÓTIPOS; FISSURA PALATINA; PACIENTES
- Agências de fomento:
- Yale Center for Mendelian Genomics and GSP Coordinating Center (NHLBI) [UM1HG006504, U24 HG008956]
- 'le plan Technologies de la Sante par le Gouvernement du Grand-Duche de Luxembourg' through the Luxembourg Centre for Systems Biomedicine (LCSB) at the University of Luxembourg
- Yale Center for Mendelian Genomics and GSP Coordinating Center (NHGRI) [UM1HG006504, U24 HG008956]
- European Research Council (ERC)European Research Council (ERC) [716344]
- FWO-FKM [1861419N]
- BOF-University of Antwerp [FFB180053]
- Eurocores program of the European Science Foundation
- European UnionEuropean Union (EU) [608473]
- Swedish Society of Medicine
- Swedish Research CouncilSwedish Research Council
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: cc-by
-
ABNT
CHATRON, Nicolas et al. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain, v. 143, p. 1447-1461, 2020Tradução . . Disponível em: https://doi.org/10.1093/brain/awaa085. Acesso em: 03 maio 2024. -
APA
Chatron, N., Becker, F., Morsy, H., Schmidts, M., Hardies, K., Tuysuz, B., et al. (2020). Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. Brain, 143, 1447-1461. doi:10.1093/brain/awaa085 -
NLM
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Kok F. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy [Internet]. Brain. 2020 ; 143 1447-1461.[citado 2024 maio 03 ] Available from: https://doi.org/10.1093/brain/awaa085 -
Vancouver
Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Kok F. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy [Internet]. Brain. 2020 ; 143 1447-1461.[citado 2024 maio 03 ] Available from: https://doi.org/10.1093/brain/awaa085 - Encefalopatias progressivas em crianças
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Informações sobre o DOI: 10.1093/brain/awaa085 (Fonte: oaDOI API)
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