{"id":17179,"date":"2015-04-01T10:28:10","date_gmt":"2015-04-01T08:28:10","guid":{"rendered":"https:\/\/genomik-tuebingen.de\/?p=17179"},"modified":"2023-12-18T11:19:54","modified_gmt":"2023-12-18T10:19:54","slug":"de-novo-loss-or-gain-of-function-mutations-in-kcna2-cause-epileptic-encephalopathy","status":"publish","type":"post","link":"https:\/\/cegat.com\/de\/de-novo-loss-or-gain-of-function-mutations-in-kcna2-cause-epileptic-encephalopathy\/","title":{"rendered":"De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy."},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\" style=\"--awb-font-size:24px;\"><p style=\"text-align: justify;\">Syrbe S, Hedrich UB,\u00a0<strong>Riesch E<\/strong>, Dj\u00e9mi\u00e9 T, M\u00fcller S, M\u00f8ller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, L\u00f6ffler H, Detert K, Dorn T, Vogt H, Kr\u00e4mer G, Sch\u00f6ls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Z\u00fcchner S, Palotie A, Suls A, De Jonghe P, Helbig I,\u00a0<strong>Biskup S<\/strong>, Wolff M, Maljevic S, Sch\u00fcle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-two\" style=\"--awb-text-color:var(--awb-custom_color_1);--awb-margin-top-small:10px;--awb-margin-right-small:0px;--awb-margin-bottom-small:10px;--awb-margin-left-small:0px;\"><h2 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;text-transform:none;--fontSize:36;line-height:var(--awb-typography1-line-height);\">Abstract<\/h2><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p><em>No abstract available<\/em><\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-3 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--link_hover_color: var(--awb-color6);--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-3 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic vertical-tabs icon-position-left mobile-mode-carousel\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-title-padding-top:10px;--awb-title-padding-right:50px;--awb-title-padding-bottom:10px;--awb-title-padding-left:50px;--awb-alignment:start;--awb-inactive-color:var(--awb-color7);--awb-title-text-color:var(--awb-color5);--awb-title-active-text-color:var(--awb-custom_color_1);--awb-background-color:var(--awb-color5);--awb-border-color:rgba(0,0,0,0.05);--awb-active-border-color:var(--awb-custom_color_1);\"><div class=\"nav\"><ul class=\"nav-tabs\" role=\"tablist\" aria-orientation=\"vertical\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-02685ef88c3ca766d52\" aria-selected=\"true\" tabindex=\"0\" id=\"fusion-tab-02685ef88c3ca766d52\" href=\"#tab-02685ef88c3ca766d52\"><h3 class=\"fusion-tab-heading\">Referenzen<\/h3><\/a><\/li><li  role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-f18e28d4b1fdbd7dee0\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-f18e28d4b1fdbd7dee0\" href=\"#tab-f18e28d4b1fdbd7dee0\"><h3 class=\"fusion-tab-heading\">Autorinnen\/Autoren<\/h3><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-02685ef88c3ca766d52\" id=\"tab-02685ef88c3ca766d52\">\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25751627\/\" target=\"_blank\" rel=\"noopener\">Zur NCBI Publikation<\/a><\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-f18e28d4b1fdbd7dee0\" id=\"tab-f18e28d4b1fdbd7dee0\"><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":18,"featured_media":54928,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[53],"tags":[],"class_list":["post-17179","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-veroeffentlichungen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.<\/title>\n<meta name=\"description\" content=\"Diese sowie noch weitere Publikationen, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link 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