Llwytho...
The phenotypic spectrum of SCN8A encephalopathy
OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na(v)1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS: We used high-throughput sequence analysis of th...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Neurology |
|---|---|
| Prif Awduron: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Lippincott Williams & Wilkins
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4336074/ https://ncbi.nlm.nih.gov/pubmed/25568300 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001211 |
| Tagiau: |
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