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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Int J Clin Exp Pathol |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
e-Century Publishing Corporation
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6965773/ https://ncbi.nlm.nih.gov/pubmed/31966371 |
| Ετικέτες: |
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