Article

Familial Epilepsy Associated with Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion

2023-02-02

Abstract excerpt

<h4>Background: </h4> Understanding the genetic basis of epilepsy may lead to an improved understanding of the etiology, more precise medical management, and ultimately improved outcomes. It is imperative for patients with epilepsy to obtain a molecular diagnosis, especially when a strong familial epilepsy is discovered. Case presentation The proband was a 19 years old female who experienced focal onset seizures,...

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Literature Corpus work: e9d6c44d-d266-51fa-bee4-a96a3b3f5a81
DOI: 10.21203/rs.3.rs-2493257/v1

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