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Functional analysis of a novel de novo SCN2A variant in a patient with seizures refractory to oxcarbazepine

OBJECTIVE: We admitted a female patient with infantile onset epilepsy (<3-month-old). The use of oxcarbazepine exacerbated epileptic seizures in the patient. In the present study, we aimed to identify the genetic basis of the infantile onset epilepsy in the patient, and determine the correlations...

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Detalles Bibliográficos
Autores principales:	Hu, Xiaoyue, Jing, Miao, Wang, Yanping, Liu, Yanshan, Hua, Ying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Molecular Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158977/ https://www.ncbi.nlm.nih.gov/pubmed/37152433 http://dx.doi.org/10.3389/fnmol.2023.1159649

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