{"id":6176,"date":"2023-02-17T07:12:41","date_gmt":"2023-02-17T07:12:41","guid":{"rendered":"https:\/\/beta.nanion.de\/resource_library\/2017-characterization-of-a-kcnb1-variant-associated-with-autism-intellectual-disability-and-epilepsy\/"},"modified":"2023-02-17T07:12:42","modified_gmt":"2023-02-17T07:12:42","slug":"2017-characterization-of-a-kcnb1-variant-associated-with-autism-intellectual-disability-and-epilepsy","status":"publish","type":"resource_library","link":"https:\/\/nanion.com\/zh-hans\/resource_library\/2017-characterization-of-a-kcnb1-variant-associated-with-autism-intellectual-disability-and-epilepsy\/","title":{"rendered":"2017 &#8211; Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy"},"content":{"rendered":"<p>Objective:\u00a0To perform functional characterization of a potentially pathogenic\u00a0KCNB1\u00a0variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG. Methods:\u00a0Whole-exome sequencing identified the\u00a0KCNB1\u00a0variant c.595A.T (p.Ile199Phe). Biochemical and electrophysiologic experiments were performed to determine whether this variant affected protein expression, trafficking, and channel functional properties. Results:\u00a0Biochemical characterization of the variant suggested normal protein expression and trafficking. Functional characterization revealed biophysical channel defects in assembled homotetrameric and heterotetrameric channels. Conclusions:\u00a0The identification of the\u00a0KCNB1\u00a0variant c.595A.T (p.Ile199Phe) in a neurodevelopmental disorder that included epilepsy with centrotemporal spikes expands the phenotypic spectrum of epilepsies associated with\u00a0KCNB1\u00a0variants. The KCNB1-I199F variant exhibited partial loss of function relative to the wild-type channel. This defect is arguably less severe than previously reported\u00a0KCNB1\u00a0variants, suggesting the possibility that the degree of KCNB1 protein dysfunction may influence disease severity.<\/p>\n","protected":false},"featured_media":0,"template":"","products_tags":[42],"resource_type":[75],"application_areas":[50,76],"therapeutic_areas":[55],"target_categories":[61],"target_families":[333],"targets":[262],"resource_keyword":[],"class_list":["post-6176","resource_library","type-resource_library","status-publish","hentry","products_tags-syncropatch-384","resource_type-publication","application_areas-ion-channels","application_areas-drug-discovery","therapeutic_areas-cns","target_categories-voltage-gated-ion-channels","target_families-kv-channels","targets-kv2-1"],"acf":[],"_links":{"self":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_library\/6176","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=6176"}],"wp:term":[{"taxonomy":"products_tags","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/products_tags?post=6176"},{"taxonomy":"resource_type","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_type?post=6176"},{"taxonomy":"application_areas","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/application_areas?post=6176"},{"taxonomy":"therapeutic_areas","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/therapeutic_areas?post=6176"},{"taxonomy":"target_categories","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/target_categories?post=6176"},{"taxonomy":"target_families","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/target_families?post=6176"},{"taxonomy":"targets","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/targets?post=6176"},{"taxonomy":"resource_keyword","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/resource_keyword?post=6176"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}