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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

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Title: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Authors: Depienne C; INSERM U975 (CRicm), Bâtiment Pharmacie 4 étage, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'hôpital,75013 Paris, France. christel.depienne@upmc.fr, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E
Source: Journal of medical genetics [J Med Genet] 2010 Jun; Vol. 47 (6), pp. 404-10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; INSERM U975 (CRicm), Bâtiment Pharmacie 4 étage, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'hôpital,75013 Paris, France. christel.depienne@upmc.fr<br /><searchLink fieldCode="AU" term="%22Trouillard+O%22">Trouillard O</searchLink><br /><searchLink fieldCode="AU" term="%22Gourfinkel-An+I%22">Gourfinkel-An I</searchLink><br /><searchLink fieldCode="AU" term="%22Saint-Martin+C%22">Saint-Martin C</searchLink><br /><searchLink fieldCode="AU" term="%22Bouteiller+D%22">Bouteiller D</searchLink><br /><searchLink fieldCode="AU" term="%22Graber+D%22">Graber D</searchLink><br /><searchLink fieldCode="AU" term="%22Barthez-Carpentier+MA%22">Barthez-Carpentier MA</searchLink><br /><searchLink fieldCode="AU" term="%22Gautier+A%22">Gautier A</searchLink><br /><searchLink fieldCode="AU" term="%22Villeneuve+N%22">Villeneuve N</searchLink><br /><searchLink fieldCode="AU" term="%22Dravet+C%22">Dravet C</searchLink><br /><searchLink fieldCode="AU" term="%22Livet+MO%22">Livet MO</searchLink><br /><searchLink fieldCode="AU" term="%22Rivier-Ringenbach+C%22">Rivier-Ringenbach C</searchLink><br /><searchLink fieldCode="AU" term="%22Adam+C%22">Adam C</searchLink><br /><searchLink fieldCode="AU" term="%22Dupont+S%22">Dupont S</searchLink><br /><searchLink fieldCode="AU" term="%22Baulac+S%22">Baulac S</searchLink><br /><searchLink fieldCode="AU" term="%22Héron+D%22">Héron D</searchLink><br /><searchLink fieldCode="AU" term="%22Nabbout+R%22">Nabbout R</searchLink><br /><searchLink fieldCode="AU" term="%22Leguern+E%22">Leguern E</searchLink>
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2010 Jun; Vol. 47 (6), pp. 404-10.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=20522430
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      – Type: doi
        Value: 10.1136/jmg.2009.074328
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      – Code: eng
        Text: English
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        StartPage: 404
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      – TitleFull: Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
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              Text: 2010 Jun
              Type: published
              Y: 2010
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              Value: 47
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