{"id":4167,"date":"2026-04-19T16:59:14","date_gmt":"2026-04-19T16:59:14","guid":{"rendered":"https:\/\/genepi.org.ua\/?p=4167"},"modified":"2026-04-19T16:59:15","modified_gmt":"2026-04-19T16:59:15","slug":"%d1%82%d0%be%d0%bf-5-%d0%b2%d0%b0%d0%b6%d0%bb%d0%b8%d0%b2%d0%b8%d1%85-%d0%b1%d0%b0%d0%b7-%d0%bf%d0%be%d0%b2%d1%8f%d0%b7%d0%b0%d0%bd%d0%b8%d1%85-%d1%96%d0%b7-%d0%bc%d1%83%d1%82%d0%b0%d1%86","status":"publish","type":"post","link":"https:\/\/genepi.org.ua\/en\/%d1%82%d0%be%d0%bf-5-%d0%b2%d0%b0%d0%b6%d0%bb%d0%b8%d0%b2%d0%b8%d1%85-%d0%b1%d0%b0%d0%b7-%d0%bf%d0%be%d0%b2%d1%8f%d0%b7%d0%b0%d0%bd%d0%b8%d1%85-%d1%96%d0%b7-%d0%bc%d1%83%d1%82%d0%b0%d1%86\/","title":{"rendered":"\u0422\u041e\u041f-5 \u0432\u0430\u0436\u043b\u0438\u0432\u0438\u0445 \u0431\u0430\u0437, \u043f\u043e\u0432\u2019\u044f\u0437\u0430\u043d\u0438\u0445 \u0456\u0437 \u043c\u0443\u0442\u0430\u0446\u0456\u044f\u043c\u0438 SCN1A"},"content":{"rendered":"
\"\"<\/figure>\n\n\n

\ud83e\ude77\ud83d\udc9c\u0422\u041e\u041f-5 \u0432\u0430\u0436\u043b\u0438\u0432\u0438\u0445 \u0431\u0430\u0437, \u043f\u043e\u0432\u2019\u044f\u0437\u0430\u043d\u0438\u0445 \u0456\u0437 \u043c\u0443\u0442\u0430\u0446\u0456\u044f\u043c\u0438 SCN1A:<\/p>\n

1. LOVD \u2013 SCN1A Gene Homepage<\/p>\n

\ud83c\udf10 https:\/\/databases.lovd.nl\/shared\/genes\/SCN1A?utm_source=chatgpt.com<\/p>\n

~\u0427\u0430\u0441\u0442\u0438\u043d\u0430 Global Variome \u043d\u0430 \u0431\u0430\u0437\u0456 Leiden University.
~\u041c\u0456\u0441\u0442\u0438\u0442\u044c \u043c\u0430\u0439\u0436\u0435 800 \u043f\u0443\u0431\u043b\u0456\u0447\u043d\u0438\u0445 \u0432\u0430\u0440\u0456\u0430\u043d\u0442\u0456\u0432 SCN1A, \u0449\u043e \u043e\u043f\u0438\u0441\u0430\u043d\u0456 \u0432 403 \u043f\u0430\u0446\u0456\u0454\u043d\u0442\u0430\u0445.
~\u041e\u043d\u043e\u0432\u043b\u044e\u0454\u0442\u044c\u0441\u044f – \u043e\u0441\u0442\u0430\u043d\u043d\u0454 \u0434\u043e\u0434\u0430\u0432\u0430\u043d\u043d\u044f \u0431\u0443\u043b\u043e 5 \u0442\u0440\u0430\u0432\u043d\u044f 2025 \u0440\u043e\u043a\u0443.<\/p>\n

2. ClinVar (NIH, \u0421\u0428\u0410)<\/p>\n

\ud83c\udf10 https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/<\/p>\n

\u041e\u0434\u043d\u0430 \u0437 \u043d\u0430\u0439\u0431\u0456\u043b\u044c\u0448\u0438\u0445 \u043f\u0443\u0431\u043b\u0456\u0447\u043d\u0438\u0445 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u043d\u0438\u0445 \u0431\u0430\u0437, \u0434\u0435 \u043c\u043e\u0436\u043d\u0430 \u0437\u043d\u0430\u0439\u0442\u0438:
~\u043a\u043e\u043d\u043a\u0440\u0435\u0442\u043d\u0443 \u043c\u0443\u0442\u0430\u0446\u0456\u044e \u0432 SCN1A
~\u044f\u043a \u0432\u043e\u043d\u0430 \u043a\u043b\u0430\u0441\u0438\u0444\u0456\u043a\u0443\u0454\u0442\u044c\u0441\u044f (\u043f\u0430\u0442\u043e\u0433\u0435\u043d\u043d\u0430 \/ \u0439\u043c\u043e\u0432\u0456\u0440\u043d\u043e \/ \u043d\u0435\u0432\u0456\u0434\u043e\u043c\u0430)
~\u043e\u043f\u0438\u0441 \u043a\u043b\u0456\u043d\u0456\u0447\u043d\u043e\u0433\u043e \u0432\u0438\u043f\u0430\u0434\u043a\u0443, \u044f\u043a\u0449\u043e \u043f\u043e\u0434\u0430\u043d\u0438\u0439
\ud83d\udd0d \u041f\u043e\u0448\u0443\u043a: \u201cSCN1A\u201d \u2192 \u0444\u0456\u043b\u044c\u0442\u0440 \u201cPathogenic\u201d<\/p>\n

3. DECIPHER<\/p>\n

\ud83c\udf10 https:\/\/deciphergenomics.org<\/p>\n

\u0426\u0435 \u0433\u043b\u043e\u0431\u0430\u043b\u044c\u043d\u0430 \u0431\u0430\u0437\u0430 \u0433\u0435\u043d\u043e\u043c\u043d\u0438\u0445 \u0432\u0430\u0440\u0456\u0430\u0446\u0456\u0439. \u041c\u0430\u0454:
~\u0430\u043d\u043e\u043d\u0456\u043c\u043d\u0456 \u043f\u0440\u043e\u0444\u0456\u043b\u0456 \u043f\u0430\u0446\u0456\u0454\u043d\u0442\u0456\u0432 (\u0432\u0456\u043a, \u0441\u0442\u0430\u0442\u044c, \u043a\u0440\u0430\u0457\u043d\u0430)
~\u043e\u043f\u0438\u0441 \u0444\u0435\u043d\u043e\u0442\u0438\u043f\u0443 (\u043d\u0430\u043f\u0430\u0434\u0438, \u0437\u0430\u0442\u0440\u0438\u043c\u043a\u0430, ASD \u0442\u043e\u0449\u043e)
~\u043c\u0443\u0442\u0430\u0446\u0456\u0457 SCN1A (\u0456 \u043d\u0435 \u043b\u0438\u0448\u0435)<\/p>\n

\ud83d\udfe3 \u041f\u0443\u0431\u043b\u0456\u0447\u043d\u0438\u0439 \u0434\u043e\u0441\u0442\u0443\u043f \u0447\u0430\u0441\u0442\u043a\u043e\u0432\u0438\u0439: \u0434\u0435\u044f\u043a\u0456 \u0434\u0430\u043d\u0456 \u0434\u043e\u0441\u0442\u0443\u043f\u043d\u0456 \u043b\u0438\u0448\u0435 \u043a\u043b\u0456\u043d\u0456\u0446\u0438\u0441\u0442\u0430\u043c \u0456 \u0433\u0435\u043d\u0435\u0442\u0438\u043a\u0430\u043c.<\/p>\n

4. Epi25 \/ Broad Institute (\u0421\u0428\u0410)<\/p>\n

\u0426\u0435 \u0432\u0435\u043b\u0438\u043a\u0435 \u043c\u0456\u0436\u043d\u0430\u0440\u043e\u0434\u043d\u0435 \u0434\u043e\u0441\u043b\u0456\u0434\u0436\u0435\u043d\u043d\u044f \u0435\u043f\u0456\u043b\u0435\u043f\u0442\u0438\u0447\u043d\u0438\u0445 \u0433\u0435\u043d\u043e\u043c\u0456\u0432, \u0432\u043a\u043b\u044e\u0447\u0430\u0454 SCN1A.
\u0411\u0430\u0437\u0430 \u043f\u043e\u043a\u0438 \u043d\u0435 \u0454 \u043f\u043e\u0432\u043d\u0456\u0441\u0442\u044e \u043f\u0443\u0431\u043b\u0456\u0447\u043d\u043e\u044e, \u0430\u043b\u0435 \u0434\u0430\u043d\u0456 \u0432\u0438\u043a\u043e\u0440\u0438\u0441\u0442\u043e\u0432\u0443\u044e\u0442\u044c \u0443 \u0447\u0438\u0441\u043b\u0435\u043d\u043d\u0438\u0445 \u043f\u0443\u0431\u043b\u0456\u043a\u0430\u0446\u0456\u044f\u0445.<\/p>\n

5. SCN1AMutations (\u0423\u043d\u0456\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 \u0410\u043d\u0442\u0432\u0435\u0440\u043f\u0435\u043d\u0430, \u0411\u0435\u043b\u044c\u0433\u0456\u044f)<\/p>\n

~\u0406\u043d\u0448\u0438\u0439 \u0441\u0442\u0440\u0443\u043a\u0442\u0443\u0440\u043e\u0432\u0430\u043d\u0438\u0439 \u0432\u0430\u0440\u0456\u0430\u043d\u0442 \u0431\u0430\u0437\u0438, \u0437\u0456\u0431\u0440\u0430\u043d\u0438\u0439 \u0437 2009 \u0440\u043e\u043a\u0443.
~\u041c\u0456\u0441\u0442\u0438\u0442\u044c \u043f\u043e\u043d\u0430\u0434 623 \u0443\u043d\u0456\u043a\u0430\u043b\u044c\u043d\u0456 \u0432\u0430\u0440\u0456\u0430\u043d\u0442\u0438, \u0437 \u0432\u043a\u0430\u0437\u0430\u043d\u043e\u044e \u043f\u0430\u0442\u043e\u0433\u0435\u043d\u043d\u0456\u0441\u0442\u044e \u0439 \u043f\u043e\u0441\u0438\u043b\u0430\u043d\u043d\u044f\u043c\u0438 \u043d\u0430 \u043f\u0443\u0431\u043b\u0456\u043a\u0430\u0446\u0456\u0457<\/p>\n

\ud83c\udf10 https:\/\/www.mendeley.com\/catalogue\/cacfbb6a-effc-3cf1-b6a9-4a8ba931ddee\/?utm_source=chatgpt.com<\/p>","protected":false},"excerpt":{"rendered":"

\ud83e\ude77\ud83d\udc9c\u0422\u041e\u041f-5 \u0432\u0430\u0436\u043b\u0438\u0432\u0438\u0445 \u0431\u0430\u0437, \u043f\u043e\u0432\u2019\u044f\u0437\u0430\u043d\u0438\u0445 \u0456\u0437 \u043c\u0443\u0442\u0430\u0446\u0456\u044f\u043c\u0438 SCN1A: 1. LOVD \u2013 SCN1A Gene Homepage \ud83c\udf10 https:\/\/databases.lovd.nl\/shared\/genes\/SCN1A?utm_source=chatgpt.com ~\u0427\u0430\u0441\u0442\u0438\u043d\u0430 Global Variome \u043d\u0430 \u0431\u0430\u0437\u0456 Leiden University.~\u041c\u0456\u0441\u0442\u0438\u0442\u044c \u043c\u0430\u0439\u0436\u0435 800 \u043f\u0443\u0431\u043b\u0456\u0447\u043d\u0438\u0445 \u0432\u0430\u0440\u0456\u0430\u043d\u0442\u0456\u0432 SCN1A, \u0449\u043e \u043e\u043f\u0438\u0441\u0430\u043d\u0456 \u0432 403 \u043f\u0430\u0446\u0456\u0454\u043d\u0442\u0430\u0445. ~\u041e\u043d\u043e\u0432\u043b\u044e\u0454\u0442\u044c\u0441\u044f – \u043e\u0441\u0442\u0430\u043d\u043d\u0454 \u0434\u043e\u0434\u0430\u0432\u0430\u043d\u043d\u044f \u0431\u0443\u043b\u043e 5 \u0442\u0440\u0430\u0432\u043d\u044f 2025 \u0440\u043e\u043a\u0443. 2. ClinVar (NIH, \u0421\u0428\u0410) \ud83c\udf10 https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/ \u041e\u0434\u043d\u0430 \u0437 \u043d\u0430\u0439\u0431\u0456\u043b\u044c\u0448\u0438\u0445 \u043f\u0443\u0431\u043b\u0456\u0447\u043d\u0438\u0445 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u043d\u0438\u0445 \u0431\u0430\u0437, \u0434\u0435 \u043c\u043e\u0436\u043d\u0430 […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":"","_links_to":"","_links_to_target":""},"categories":[21],"tags":[],"class_list":["post-4167","post","type-post","status-publish","format-standard","hentry","category-scn1a"],"_links":{"self":[{"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/posts\/4167","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/comments?post=4167"}],"version-history":[{"count":1,"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/posts\/4167\/revisions"}],"predecessor-version":[{"id":4169,"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/posts\/4167\/revisions\/4169"}],"wp:attachment":[{"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/media?parent=4167"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/categories?post=4167"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genepi.org.ua\/en\/wp-json\/wp\/v2\/tags?post=4167"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}