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Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A : A Case Report
The Thr226Met pathologic variant of the SCN1A gene has been associated with the clinical development of an early infantile developmental and epileptic encephalopathy (EIDEE) different from Dravet's syndrome. The electrophysiological mechanisms of the mutated channel lead to a paradoxical gain a...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Georg Thieme Verlag KG
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10643020/ https://www.ncbi.nlm.nih.gov/pubmed/37467773 http://dx.doi.org/10.1055/a-2133-5343 |