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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...

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Detalles Bibliográficos
Autores principales: Nájera-Chávez, Brenda Carolina, Seeber, Lea, Goldhahn, Klaus, Panzer, Axel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2023
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

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