About: A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

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About: A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy Goto Sponge NotDistinct Permalink

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scientific article (publication date: 23 September 2003)

Attributes	Values
rdf:type	Item
description	article científic (ca) article scientific (oc) articol științific (ro) artigo científico (gl) artikulong pang-agham (tl) scienca artikolo (eo) teaduslik artikkel (et) tieteellinen artikkeli (fi) tudományos cikk (hu) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) επιστημονικό άρθρο (el) мақолаи илмӣ (tg) מאמר מדעי (he) სამეცნიერო სტატია (ka) บทความทางวิทยาศาสตร์ (th) artikel ilmiah (id) naučni članak (sr-el) мақолаи илмӣ (tg-cyrl) artículu científicu espublizáu en 2003 (ast) maqolai ilmiy (tg-latn) ২০০৩-এ প্রকাশিত বৈজ্ঞানিক নিবন্ধ (bn) 2003년 논문 (ko) 2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված (hy) 2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած (hyw) 2003 nî ê lūn-bûn (nan) 2003年の学術論文 (ja) 2003年学术文章 (zh-cn) 2003年学术文章 (zh-sg) 2003年学术文章 (zh-hans) 2003年学术文章 (wuu) 2003年学术文章 (zh-my) 2003年學術文章 (zh) 2003年學術文章 (zh-hk) 2003年學術文章 (zh-tw) 2003年學術文章 (zh-hant) 2003年學術文章 (yue) 2003年學術文章 (zh-mo) vetenskaplig artikel publicerad den 23 september 2003 (sv) 23 Eylül 2003'de yayımlanmış bilimsel makale (tr) artigo científico publicado em 23 de setembro de 2003 (pt) artigo científico publicado em 23 de setembro de 2003 (pt-br) im 23. September 2003 veröffentlichter wissenschaftlicher Artikel (de) article scientifique publié le 23 septembre 2003 (fr) artikull shkencor i botuar më 23 shtator 2003 (sq) artykuł naukowy opublikowany 23 września 2003 (pl) articolo scientifico pubblicato il 23 settembre 2003 (it) bài báo khoa học xuất bản ngày 23 tháng 9, 2003 (vi) scientific article published on 23 September 2003 (en-gb) vedecký článok publikovaný 23. septembra 2003 (sk) vědecký článek publikovaný 23. září 2003 (cs) znanstveni članek objavljen 23. september 2003 (sl) mokslinis straipsnis, publikuotas 2003 m. rugsėjo 23 d. (lt) научна статия, публикувана на 23 септември 2003 г. (bg) научни чланак објављен 23. септембар 2003. (sr) научни чланак објављен 23. септембар 2003. (sr-ec) wetenschappelijk artikel gepubliceerd op 23 september 2003 (nl) videnskabelig artikel offentliggjort den 23. september 2003 (da) artículo científico publicado el 23 de septiembre de 2003 (es) научная статья опубликованная 23 сентября 2003 г. (ru) scientific article (publication date: 23 September 2003) (en) مقالة علمية (نشرت في 23-9-2003) (ar) наукова стаття, опублікована 23 вересня 2003 (uk)
publication date	wds:Q28204457-8084ECE1-D714-42CE-90C9-4A16C799BC38
publication date	2003-09-23 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28204457-FF966D35-5C54-4504-A38D-29B39B751CDE
language of work or name	English
cites work	wds:Q28204457-04883C26-83C8-4A3C-896E-8025F9FD401D wds:Q28204457-16AE0E1A-D09A-40AE-92A2-48976B52BE37 wds:Q28204457-912DF6DC-EEA5-4081-BE7E-93477B69C432 wds:Q28204457-A0439A0C-8972-4653-AC6E-91DBC4BB4AD0 wds:Q28204457-B6C07DFA-4427-48C5-A615-8CE6C5B14E04 wds:Q28204457-C7AC94D8-38B0-4421-907E-CFE9F336EB08 wds:Q28204457-C8329814-77E4-45FD-83D5-6DE81F684806 wds:Q28204457-CE582194-C613-4F23-9DC7-6B79ED882740 wds:Q28204457-E728936F-58A7-4D51-8810-DBD92C1225F0 wds:Q28204457-F699D44B-6667-46D8-9F9F-84D6795ACFCB
cites work	Nature Genetics Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1 A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.
author name string	wds:Q28204457-38566076-BFE9-4B4D-8187-D2E9C2432108 wds:Q28204457-5E79490F-AADE-4BA0-836D-A657E5ECCFC8 wds:Q28204457-AF2586E6-C969-4695-977B-C4AE5F843994 wds:Q28204457-D25FE26F-8C44-4A98-9B17-A37DD3CF6555 wds:Q28204457-E4F7F491-C607-4444-91C2-7953A725A1FE
OpenCitations bibliographic resource ID	wds:Q28204457-970D87AD-DD4F-4B9D-B458-2F00034C30F1
OpenCitations bibliographic resource ID	https://w3id.org/oc/corpus/br/1409789
author name string	P. De Jonghe L. Claes A. Löfgren B. Ceulemans D. Audenaert

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