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Molecular typing of familial temporal lobe epilepsy

The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including...

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Autores principales: Liu, Chao, Qiao, Xiao-Zhi, Wei, Zi-Han, Cao, Mi, Wu, Zhen-Yu, Deng, Yan-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8783165/
https://www.ncbi.nlm.nih.gov/pubmed/35111581
http://dx.doi.org/10.5498/wjp.v12.i1.98
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author Liu, Chao
Qiao, Xiao-Zhi
Wei, Zi-Han
Cao, Mi
Wu, Zhen-Yu
Deng, Yan-Chun
author_facet Liu, Chao
Qiao, Xiao-Zhi
Wei, Zi-Han
Cao, Mi
Wu, Zhen-Yu
Deng, Yan-Chun
author_sort Liu, Chao
collection PubMed
description The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database. These types of FTLE were caused by different genes/Loci and had distinct characteristics. ETL1, ETL7 and ETL10 were characterized by auditory, visual and aphasia seizures, leading to the diagnosis of familial lateral TLE. ETL2, ETL3 and ETL6 showed prominent autonomic symptom and automatism with or without hippocampal abnormalities, indicating a mesial temporal origin. Febrile seizures were common in FTLEs such as ETL2, ETL5, ETL6 and ETL11. ETL4 was diagnosed as occipitotemporal lobe epilepsy with a high incidence of migraine and visual aura. Considering the diversity and complexity of the symptoms of TLE, neurologists enquiring about the family history of epilepsy should ask whether the relatives of the proband had experienced unnoticeable seizures and whether there is a family history of other neurological diseases carefully. Most FTLE patients had a good prognosis with or without anti-seizure medication treatment, with the exception of patients with heterozygous mutations of the CPA6 gene. The pathogenic mechanism was diverse among these genes and spans disturbances of neuron development, differentiation and synaptic signaling. In this article, we describe the research progress on eleven different types of FTLE. The precise molecular typing of FTLE would facilitate the diagnosis and treatment of FTLE and genetic counseling for this disorder.
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spelling pubmed-87831652022-02-01 Molecular typing of familial temporal lobe epilepsy Liu, Chao Qiao, Xiao-Zhi Wei, Zi-Han Cao, Mi Wu, Zhen-Yu Deng, Yan-Chun World J Psychiatry Minireviews The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database. These types of FTLE were caused by different genes/Loci and had distinct characteristics. ETL1, ETL7 and ETL10 were characterized by auditory, visual and aphasia seizures, leading to the diagnosis of familial lateral TLE. ETL2, ETL3 and ETL6 showed prominent autonomic symptom and automatism with or without hippocampal abnormalities, indicating a mesial temporal origin. Febrile seizures were common in FTLEs such as ETL2, ETL5, ETL6 and ETL11. ETL4 was diagnosed as occipitotemporal lobe epilepsy with a high incidence of migraine and visual aura. Considering the diversity and complexity of the symptoms of TLE, neurologists enquiring about the family history of epilepsy should ask whether the relatives of the proband had experienced unnoticeable seizures and whether there is a family history of other neurological diseases carefully. Most FTLE patients had a good prognosis with or without anti-seizure medication treatment, with the exception of patients with heterozygous mutations of the CPA6 gene. The pathogenic mechanism was diverse among these genes and spans disturbances of neuron development, differentiation and synaptic signaling. In this article, we describe the research progress on eleven different types of FTLE. The precise molecular typing of FTLE would facilitate the diagnosis and treatment of FTLE and genetic counseling for this disorder. Baishideng Publishing Group Inc 2022-01-19 /pmc/articles/PMC8783165/ /pubmed/35111581 http://dx.doi.org/10.5498/wjp.v12.i1.98 Text en ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
spellingShingle Minireviews
Liu, Chao
Qiao, Xiao-Zhi
Wei, Zi-Han
Cao, Mi
Wu, Zhen-Yu
Deng, Yan-Chun
Molecular typing of familial temporal lobe epilepsy
title Molecular typing of familial temporal lobe epilepsy
title_full Molecular typing of familial temporal lobe epilepsy
title_fullStr Molecular typing of familial temporal lobe epilepsy
title_full_unstemmed Molecular typing of familial temporal lobe epilepsy
title_short Molecular typing of familial temporal lobe epilepsy
title_sort molecular typing of familial temporal lobe epilepsy
topic Minireviews
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8783165/
https://www.ncbi.nlm.nih.gov/pubmed/35111581
http://dx.doi.org/10.5498/wjp.v12.i1.98
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