Fontaine B - Search Results

1

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C. Gay S, et al. Among authors: fontaine b. Am J Med Genet A. 2008 Feb 1;146A(3):380-3. doi: 10.1002/ajmg.a.32141. Am J Med Genet A. 2008. PMID: 18203179

2

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

Bouhours M, Sternberg D, Davoine CS, Ferrer X, Willer JC, Fontaine B, Tabti N. Bouhours M, et al. Among authors: fontaine b. J Physiol. 2004 Feb 1;554(Pt 3):635-47. doi: 10.1113/jphysiol.2003.053082. Epub 2003 Nov 14. J Physiol. 2004. PMID: 14617673 Free PMC article.

3

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

Carle T, Lhuillier L, Luce S, Sternberg D, Devuyst O, Fontaine B, Tabti N. Carle T, et al. Among authors: fontaine b. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. doi: 10.1016/j.bbrc.2006.07.101. Epub 2006 Jul 28. Biochem Biophys Res Commun. 2006. PMID: 16890191

4

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

Simkin D, Léna I, Landrieu P, Lion-François L, Sternberg D, Fontaine B, Bendahhou S. Simkin D, et al. Among authors: fontaine b. J Physiol. 2011 Jul 1;589(Pt 13):3115-24. doi: 10.1113/jphysiol.2011.207977. Epub 2011 Apr 26. J Physiol. 2011. PMID: 21521764 Free PMC article.

5

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

Bouhours M, Luce S, Sternberg D, Willer JC, Fontaine B, Tabti N. Bouhours M, et al. Among authors: fontaine b. J Physiol. 2005 Jun 1;565(Pt 2):415-27. doi: 10.1113/jphysiol.2004.081018. Epub 2005 Mar 24. J Physiol. 2005. PMID: 15790667 Free PMC article.

6

Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.

Carle T, Fournier E, Sternberg D, Fontaine B, Tabti N. Carle T, et al. Among authors: fontaine b. J Physiol. 2009 Apr 15;587(Pt 8):1705-14. doi: 10.1113/jphysiol.2008.165787. Epub 2009 Feb 16. J Physiol. 2009. PMID: 19221125 Free PMC article.

7

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: fontaine b. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.

8

Substitutions of the S4DIV R2 residue (R1451) in Na_V1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Poulin H, Gosselin-Badaroudine P, Vicart S, Habbout K, Sternberg D, Giuliano S, Fontaine B, Bendahhou S, Nicole S, Chahine M. Poulin H, et al. Among authors: fontaine b. Sci Rep. 2018 Feb 1;8(1):2041. doi: 10.1038/s41598-018-20468-0. Sci Rep. 2018. PMID: 29391559 Free PMC article.

9

A204E mutation in Na_v1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Kokunai Y, Dalle C, Vicart S, Sternberg D, Pouliot V, Bendahhou S, Fournier E, Chahine M, Fontaine B, Nicole S. Kokunai Y, et al. Among authors: fontaine b. Sci Rep. 2018 Nov 12;8(1):16681. doi: 10.1038/s41598-018-34750-8. Sci Rep. 2018. PMID: 30420713 Free PMC article.

10

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S. Habbout K, et al. Among authors: fontaine b. Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11. Neurology. 2016. PMID: 26659129 Free PMC article.

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