{"id":11113,"date":"2023-05-02T09:29:22","date_gmt":"2023-05-02T09:29:22","guid":{"rendered":"https:\/\/www.nanion.de\/?post_type=resource_library&#038;p=11113"},"modified":"2023-05-02T09:29:22","modified_gmt":"2023-05-02T09:29:22","slug":"2023-gabrg2-variants-associated-with-febrile-seizures","status":"publish","type":"resource_library","link":"https:\/\/nanion.com\/zh-hans\/resource_library\/2023-gabrg2-variants-associated-with-febrile-seizures\/","title":{"rendered":"2023 &#8211; GABRG2 Variants Associated with Febrile Seizures"},"content":{"rendered":"<p>Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy. We found that among the GABA<sub>A<\/sub>\u00a0receptor subunit (<span class=\"html-italic\">GABR<\/span>) genes, most variants associated with FS are harbored in the \u03b32 subunit (<span class=\"html-italic\">GABRG2<\/span>). Here, we characterized the effects of eight variants in the GABA<sub>A<\/sub>\u00a0receptor \u03b32 subunit on receptor biogenesis and channel function. Two-thirds of the\u00a0<span class=\"html-italic\">GABRG2<\/span>\u00a0variants followed the expected autosomal dominant inheritance in FS and occurred as missense and nonsense variants. The remaining one-third appeared as de novo in the affected probands and occurred only as missense variants. The loss of GABA<sub>A<\/sub>\u00a0receptor function and dominant negative effect on GABA<sub>A<\/sub>\u00a0receptor biogenesis likely caused the FS phenotype. In general, variants in the\u00a0<span class=\"html-italic\">GABRG2<\/span>\u00a0result in a broad spectrum of phenotypic severity, ranging from asymptomatic, FS, genetic epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome individuals. The data presented here support the link between FS, epilepsy, and\u00a0<span class=\"html-italic\">GABRG2<\/span>\u00a0variants, shedding light on the relationship between the variant topological occurrence and disease severity.<\/p>\n","protected":false},"featured_media":0,"template":"","products_tags":[42],"resource_type":[75],"application_areas":[50],"therapeutic_areas":[55],"target_categories":[337],"target_families":[359],"targets":[],"resource_keyword":[],"class_list":["post-11113","resource_library","type-resource_library","status-publish","hentry","products_tags-syncropatch-384","resource_type-publication","application_areas-ion-channels","therapeutic_areas-cns","target_categories-ligand-gated-ion-channels","target_families-gabaa-receptors"],"acf":[],"_links":{"self":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_library\/11113","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_library"}],"about":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/types\/resource_library"}],"wp:attachment":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/media?parent=11113"}],"wp:term":[{"taxonomy":"products_tags","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/products_tags?post=11113"},{"taxonomy":"resource_type","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_type?post=11113"},{"taxonomy":"application_areas","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/application_areas?post=11113"},{"taxonomy":"therapeutic_areas","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/therapeutic_areas?post=11113"},{"taxonomy":"target_categories","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/target_categories?post=11113"},{"taxonomy":"target_families","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/target_families?post=11113"},{"taxonomy":"targets","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/targets?post=11113"},{"taxonomy":"resource_keyword","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_keyword?post=11113"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}