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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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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
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author Xu, Tony
Luong, Dorris
Zhong, Ning
author_facet Xu, Tony
Luong, Dorris
Zhong, Ning
author_sort Xu, Tony
collection PubMed
description 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. We investigated a multi-generational family with epilepsy. The proband was a 19-year-old female who experienced focal onset seizures, with presenting symptoms of feeling dizzy, disorientation, and loss of consciousness. Her electroencephalography (EEG) studies revealed interictal focal slowing and sharp waves in both the left or right hemispheres independently. EEG monitoring showed that the seizures arose from the left fronto-temporal region and her brain MRI was normal. The proband's sister also suffered from focal onset seizures. Her EEG showed focal epileptiform discharge in the right temporal region, and her brain MRI was unrevealing. Two genetic tests were conducted for the proband: 1) array comparative genomic hybridization (CGH) revealed 16p13.3 deletion but no 22q deletion; and 2) next generation sequencing (NGS) Epilepsy Panel revealed a few variants of uncertain significance (VUS), including in CHRNB2 (c.1423A>G, p.Ile475Val) and RBFOX1 (RNA binding fox-1 homolog 1) (exon1-2 deletion). The proband’s sister also carries both the CHRNB2 (cholinergic receptor nicotinic beta 2) variant and RBFOX1 deletion. The proband’s father carries the CHRNB2 variant, and her brother and mother carry the deletion of RBFOX1. In this family, the co-expression of the CHRNB2 variant and RBFOX1 deletion may cause the clinical seizures seen in the proband and her sister. It is also possible that the RBFOX1 deletion is associated with an increased risk of seizure disorder with variable expressivity.
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spelling pubmed-100762432023-04-07 Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report Xu, Tony Luong, Dorris Zhong, Ning Cureus Genetics 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. We investigated a multi-generational family with epilepsy. The proband was a 19-year-old female who experienced focal onset seizures, with presenting symptoms of feeling dizzy, disorientation, and loss of consciousness. Her electroencephalography (EEG) studies revealed interictal focal slowing and sharp waves in both the left or right hemispheres independently. EEG monitoring showed that the seizures arose from the left fronto-temporal region and her brain MRI was normal. The proband's sister also suffered from focal onset seizures. Her EEG showed focal epileptiform discharge in the right temporal region, and her brain MRI was unrevealing. Two genetic tests were conducted for the proband: 1) array comparative genomic hybridization (CGH) revealed 16p13.3 deletion but no 22q deletion; and 2) next generation sequencing (NGS) Epilepsy Panel revealed a few variants of uncertain significance (VUS), including in CHRNB2 (c.1423A>G, p.Ile475Val) and RBFOX1 (RNA binding fox-1 homolog 1) (exon1-2 deletion). The proband’s sister also carries both the CHRNB2 (cholinergic receptor nicotinic beta 2) variant and RBFOX1 deletion. The proband’s father carries the CHRNB2 variant, and her brother and mother carry the deletion of RBFOX1. In this family, the co-expression of the CHRNB2 variant and RBFOX1 deletion may cause the clinical seizures seen in the proband and her sister. It is also possible that the RBFOX1 deletion is associated with an increased risk of seizure disorder with variable expressivity. Cureus 2023-03-06 /pmc/articles/PMC10076243/ /pubmed/37033539 http://dx.doi.org/10.7759/cureus.35845 Text en Copyright © 2023, Xu et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Xu, Tony
Luong, Dorris
Zhong, Ning
Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report
title Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report
title_full Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report
title_fullStr Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report
title_full_unstemmed Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report
title_short Familial Epilepsy Associated With Concurrent CHRNB2 Mutation and RBFOX1 Exon Deletion: A Case Report
title_sort familial epilepsy associated with concurrent chrnb2 mutation and rbfox1 exon deletion: a case report
topic Genetics
url 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
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