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SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epil...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMC Med Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5604297/ https://ncbi.nlm.nih.gov/pubmed/28923014 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0460-1 |
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