A carregar...
De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction
Early-onset epileptic encephalopathies (EOEEs) are a group of phenotypically and genetically heterogeneous neurodevelopmental disorders. Mutations of SCN2A, the gene encoding the aII subunit of the voltage-gated sodium channel (Nav1.2), have been detected in some EOEE patients. This report describes...
Na minha lista:
| Publicado no: | Int J Clin Exp Pathol |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
e-Century Publishing Corporation
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6965773/ https://ncbi.nlm.nih.gov/pubmed/31966371 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|