Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome
•AAS is a common seizure form of refractory epilepsy often associated with epileptic syndromes.•AS have not been thoroughly studied in terms of both basic and clinical research.•Neural network of AAS might be cortical-thalamic-hippocampal circuit related.•Mutations in ion channels and GABAergic func...
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Veröffentlicht in: | Epilepsy & behavior 2024-02, Vol.151, p.109636-109636, Article 109636 |
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creator | Zhao, Xiaoyu He, Zimeng Li, Yumei Yang, Xiaofan Li, Baomin |
description | •AAS is a common seizure form of refractory epilepsy often associated with epileptic syndromes.•AS have not been thoroughly studied in terms of both basic and clinical research.•Neural network of AAS might be cortical-thalamic-hippocampal circuit related.•Mutations in ion channels and GABAergic function are most common in AAS.
Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. To improve clinicians' understanding of atypical absences and provide novel perspectives for clinical treatment, we have reviewed the electro-clinical characteristics, etiologies, treatment, and prognosis of atypical absences, with a focus on the etiology of advancements in gene variants, shedding light on potential avenues for improved clinical management. |
doi_str_mv | 10.1016/j.yebeh.2024.109636 |
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Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. To improve clinicians' understanding of atypical absences and provide novel perspectives for clinical treatment, we have reviewed the electro-clinical characteristics, etiologies, treatment, and prognosis of atypical absences, with a focus on the etiology of advancements in gene variants, shedding light on potential avenues for improved clinical management.</description><identifier>ISSN: 1525-5050</identifier><identifier>EISSN: 1525-5069</identifier><identifier>DOI: 10.1016/j.yebeh.2024.109636</identifier><identifier>PMID: 38232560</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Atypical absence seizures ; Developmental epileptic encephalopathies ; Gene variant ; Neural networks ; Typical absence seizures</subject><ispartof>Epilepsy & behavior, 2024-02, Vol.151, p.109636-109636, Article 109636</ispartof><rights>2024 Elsevier Inc.</rights><rights>Copyright © 2024 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c309t-34b2b7d01989fea17db17381ea71dae5d95e5a83d5835a95cbb85a46ba3e327d3</cites><orcidid>0000-0001-6320-4228</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1525505024000179$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38232560$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhao, Xiaoyu</creatorcontrib><creatorcontrib>He, Zimeng</creatorcontrib><creatorcontrib>Li, Yumei</creatorcontrib><creatorcontrib>Yang, Xiaofan</creatorcontrib><creatorcontrib>Li, Baomin</creatorcontrib><title>Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome</title><title>Epilepsy & behavior</title><addtitle>Epilepsy Behav</addtitle><description>•AAS is a common seizure form of refractory epilepsy often associated with epileptic syndromes.•AS have not been thoroughly studied in terms of both basic and clinical research.•Neural network of AAS might be cortical-thalamic-hippocampal circuit related.•Mutations in ion channels and GABAergic function are most common in AAS.
Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. To improve clinicians' understanding of atypical absences and provide novel perspectives for clinical treatment, we have reviewed the electro-clinical characteristics, etiologies, treatment, and prognosis of atypical absences, with a focus on the etiology of advancements in gene variants, shedding light on potential avenues for improved clinical management.</description><subject>Atypical absence seizures</subject><subject>Developmental epileptic encephalopathies</subject><subject>Gene variant</subject><subject>Neural networks</subject><subject>Typical absence seizures</subject><issn>1525-5050</issn><issn>1525-5069</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kc1OHDEQhC0UxF_yBJEiH3NgFnu8np9IOawQBCQkLsnZatu9xKvZ8cQ9CxregLfGu0s4crLVqvpaXcXYVylmUsjqYjWb0OLfWSnKeZ60laoO2InUpS60qNpP738tjtkp0UoIKbWSR-xYNaUqdSVO2MtinIbgoONgCXuHnDA8bxISh97zB-yRP0IK0I_0gy92g8ICoecJHwM-8bjkOIbYxYfpnGOHbkyxcF3od9Qlwrilne9wQBRdgDG7cQgdDjRxmnqf4ho_s8MldIRf3t4z9uf66vflTXF3_-v2cnFXOCXasVBzW9raC9k2bYbL2ltZq0Yi1NIDat9q1NAorxulodXO2kbDvLKgUJW1V2fs-547pPhvgzSadSCHXQc9xg2ZspXVPOenZJaqvdSlSJRwaYYU1pAmI4XZdmBWZteB2XZg9h1k17e3BRu7Rv_u-R96FvzcCzCfmTNMhlzYZu9DyvEZH8OHC14Bv1GbQw</recordid><startdate>202402</startdate><enddate>202402</enddate><creator>Zhao, Xiaoyu</creator><creator>He, Zimeng</creator><creator>Li, Yumei</creator><creator>Yang, Xiaofan</creator><creator>Li, Baomin</creator><general>Elsevier Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-6320-4228</orcidid></search><sort><creationdate>202402</creationdate><title>Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome</title><author>Zhao, Xiaoyu ; He, Zimeng ; Li, Yumei ; Yang, Xiaofan ; Li, Baomin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c309t-34b2b7d01989fea17db17381ea71dae5d95e5a83d5835a95cbb85a46ba3e327d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Atypical absence seizures</topic><topic>Developmental epileptic encephalopathies</topic><topic>Gene variant</topic><topic>Neural networks</topic><topic>Typical absence seizures</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhao, Xiaoyu</creatorcontrib><creatorcontrib>He, Zimeng</creatorcontrib><creatorcontrib>Li, Yumei</creatorcontrib><creatorcontrib>Yang, Xiaofan</creatorcontrib><creatorcontrib>Li, Baomin</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Epilepsy & behavior</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhao, Xiaoyu</au><au>He, Zimeng</au><au>Li, Yumei</au><au>Yang, Xiaofan</au><au>Li, Baomin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome</atitle><jtitle>Epilepsy & behavior</jtitle><addtitle>Epilepsy Behav</addtitle><date>2024-02</date><risdate>2024</risdate><volume>151</volume><spage>109636</spage><epage>109636</epage><pages>109636-109636</pages><artnum>109636</artnum><issn>1525-5050</issn><eissn>1525-5069</eissn><abstract>•AAS is a common seizure form of refractory epilepsy often associated with epileptic syndromes.•AS have not been thoroughly studied in terms of both basic and clinical research.•Neural network of AAS might be cortical-thalamic-hippocampal circuit related.•Mutations in ion channels and GABAergic function are most common in AAS.
Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. To improve clinicians' understanding of atypical absences and provide novel perspectives for clinical treatment, we have reviewed the electro-clinical characteristics, etiologies, treatment, and prognosis of atypical absences, with a focus on the etiology of advancements in gene variants, shedding light on potential avenues for improved clinical management.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>38232560</pmid><doi>10.1016/j.yebeh.2024.109636</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0001-6320-4228</orcidid></addata></record> |
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subjects | Atypical absence seizures Developmental epileptic encephalopathies Gene variant Neural networks Typical absence seizures |
title | Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome |
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