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Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy

OBJECTIVE: This study aimed to summarize the clinical phenotype and genotype of children with epilepsy caused by GABRA1 gene variants. METHODS: Eight epilepsy patients, who were admitted to Qilu Hospital of Shandong University from 2015 to 2021, were enrolled in the study. GABRA1 gene variants were...

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Autores principales: Zhang, Linlin, Liu, Xinjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350551/
https://www.ncbi.nlm.nih.gov/pubmed/35937053
http://dx.doi.org/10.3389/fneur.2022.941054
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author Zhang, Linlin
Liu, Xinjie
author_facet Zhang, Linlin
Liu, Xinjie
author_sort Zhang, Linlin
collection PubMed
description OBJECTIVE: This study aimed to summarize the clinical phenotype and genotype of children with epilepsy caused by GABRA1 gene variants. METHODS: Eight epilepsy patients, who were admitted to Qilu Hospital of Shandong University from 2015 to 2021, were enrolled in the study. GABRA1 gene variants were detected by whole-exome sequencing. Epilepsy clinical manifestations, electroencephalography, neuroimaging characteristics and treatment methods were retrospectively analyzed. RESULTS: Among the eight patients, four were males and four were females. Epilepsy onset age was between 3 and 8 months of age. Two patients had a family history of epilepsy. Six cases were de novo variants, and two were hereditary variants. Two children carried the same pathogenic variants, and five carried novel pathogenic variants that had not been reported internationally. The types of seizures were diverse, including focal seizures in five cases, generalized tonic-clonic seizures in five cases, and spasms in two cases. Electroencephalography of seven cases showed abnormal background rhythms, and six cases showed abnormal discharge during the interictal period. No obvious abnormalities were found on magnetic resonance imaging in five cases. All eight children had different degrees of developmental retardation. CONCLUSION: De novo pathogenic variants in GABRA1 are more common than inherited pathogenic variants, and most epilepsy symptoms begin in the first year of life, manifesting with a variety of seizure types and developmental delays. Conventional treatment usually involves one or more drugs; although drug treatment can control seizures in some cases, cognitive and developmental deficits often exist. The five newly discovered pathogenic variants enrich the GABRA1 gene pathogenic variant spectrum.
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spelling pubmed-93505512022-08-05 Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy Zhang, Linlin Liu, Xinjie Front Neurol Neurology OBJECTIVE: This study aimed to summarize the clinical phenotype and genotype of children with epilepsy caused by GABRA1 gene variants. METHODS: Eight epilepsy patients, who were admitted to Qilu Hospital of Shandong University from 2015 to 2021, were enrolled in the study. GABRA1 gene variants were detected by whole-exome sequencing. Epilepsy clinical manifestations, electroencephalography, neuroimaging characteristics and treatment methods were retrospectively analyzed. RESULTS: Among the eight patients, four were males and four were females. Epilepsy onset age was between 3 and 8 months of age. Two patients had a family history of epilepsy. Six cases were de novo variants, and two were hereditary variants. Two children carried the same pathogenic variants, and five carried novel pathogenic variants that had not been reported internationally. The types of seizures were diverse, including focal seizures in five cases, generalized tonic-clonic seizures in five cases, and spasms in two cases. Electroencephalography of seven cases showed abnormal background rhythms, and six cases showed abnormal discharge during the interictal period. No obvious abnormalities were found on magnetic resonance imaging in five cases. All eight children had different degrees of developmental retardation. CONCLUSION: De novo pathogenic variants in GABRA1 are more common than inherited pathogenic variants, and most epilepsy symptoms begin in the first year of life, manifesting with a variety of seizure types and developmental delays. Conventional treatment usually involves one or more drugs; although drug treatment can control seizures in some cases, cognitive and developmental deficits often exist. The five newly discovered pathogenic variants enrich the GABRA1 gene pathogenic variant spectrum. Frontiers Media S.A. 2022-07-20 /pmc/articles/PMC9350551/ /pubmed/35937053 http://dx.doi.org/10.3389/fneur.2022.941054 Text en Copyright © 2022 Zhang and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Zhang, Linlin
Liu, Xinjie
Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
title Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
title_full Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
title_fullStr Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
title_full_unstemmed Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
title_short Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
title_sort clinical phenotype and genotype of children with gaba(a) receptor α1 subunit gene-related epilepsy
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350551/
https://www.ncbi.nlm.nih.gov/pubmed/35937053
http://dx.doi.org/10.3389/fneur.2022.941054
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