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Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report

Understanding the genetic basis of epilepsy may lead to an improved understanding of its etiology, more precise medical management, and ultimately improved outcomes. It is imperative for patients with epilepsy to obtain a molecular diagnosis, especially when strong familial epilepsy is discovered. W...

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Detalles Bibliográficos
Autores principales: Xu, Tony, Luong, Dorris, Zhong, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10076243/
https://www.ncbi.nlm.nih.gov/pubmed/37033539
http://dx.doi.org/10.7759/cureus.35845