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SCN1B‐linked early infantile developmental and epileptic encephalopathy
OBJECTIVE: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits. METHODS: Here, we describe the detailed electroclinical features of a biallelic SC...
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| Publicado no: | Ann Clin Transl Neurol |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6917350/ https://ncbi.nlm.nih.gov/pubmed/31709768 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.50921 |
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