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Untangling the Dravet Syndrome Seizure Network: The Changing Face of a Rare Genetic Epilepsy
Dravet syndrome (also known as Severe Myoclonic Epilepsy of Infancy) is a rare genetic epilepsy syndrome commonly associated with loss-of-function mutations in SCN1A, the gene encoding the α subunit of the voltage-gated sodium channel Na(V)1.1, resulting in haploinsufficiency. Like other voltage-gat...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
American Epilepsy Society
2014
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4010885/ https://ncbi.nlm.nih.gov/pubmed/24872787 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5698/1535-7597-14.2.86 |
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