These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
43. 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 J Physiol; 2004 Feb; 554(Pt 3):635-47. PubMed ID: 14617673 [TBL] [Abstract][Full Text] [Related]
44. [Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]. Narberhaus B; Cormand B; Cuenca-León E; Ribasés M; Monells J Neurologia; 2008 Sep; 23(7):427-35. PubMed ID: 18726720 [TBL] [Abstract][Full Text] [Related]
45. Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome. Lossin C; Nam TS; Shahangian S; Rogawski MA; Choi SY; Kim MK; Sunwoo IN Neurology; 2012 Sep; 79(10):1033-40. PubMed ID: 22914841 [TBL] [Abstract][Full Text] [Related]
47. Substitutions of the S4DIV R2 residue (R1451) in Na Poulin H; Gosselin-Badaroudine P; Vicart S; Habbout K; Sternberg D; Giuliano S; Fontaine B; Bendahhou S; Nicole S; Chahine M Sci Rep; 2018 Feb; 8(1):2041. PubMed ID: 29391559 [TBL] [Abstract][Full Text] [Related]
48. Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia. Francis DG; Rybalchenko V; Struyk A; Cannon SC Neurology; 2011 May; 76(19):1635-41. PubMed ID: 21490317 [TBL] [Abstract][Full Text] [Related]
49. Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. Plassart E; Eymard B; Maurs L; Hauw JJ; Lyon-Caen O; Fardeau M; Fontaine B J Neurol Sci; 1996 Oct; 142(1-2):126-33. PubMed ID: 8902732 [TBL] [Abstract][Full Text] [Related]
50. In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis. Tan SV; Suetterlin K; Männikkö R; Matthews E; Hanna MG; Bostock H Clin Neurophysiol; 2020 Apr; 131(4):816-827. PubMed ID: 32066100 [TBL] [Abstract][Full Text] [Related]
51. Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita. Parasivam S; Krupa M; Slee M; Thyagarajan DE Med J Aust; 2009 Mar; 190(6):334-6. PubMed ID: 19296818 [TBL] [Abstract][Full Text] [Related]
52. Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families. Cibulcik F; Spalek P; Martinka I; Zidkova J; Grofik M; Sivak S; Kurca E Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2019 Dec; 163(4):362-365. PubMed ID: 30647473 [TBL] [Abstract][Full Text] [Related]
53. What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed. Matthews E; Tan SV; Fialho D; Sweeney MG; Sud R; Haworth A; Stanley E; Cea G; Davis MB; Hanna MG Neurology; 2008 Jan; 70(1):50-3. PubMed ID: 18166706 [TBL] [Abstract][Full Text] [Related]
54. p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome. Rigamonti A; Mantero V; Peverelli L; Pagliarani S; Lucchiari S; Comi G; Gibertini S; Salmaggi A Neurol Sci; 2021 Dec; 42(12):5359-5363. PubMed ID: 34378097 [TBL] [Abstract][Full Text] [Related]
55. Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis. Nurputra DK; Nakagawa T; Takeshima Y; Harahap IS; Morikawa S; Sakaeda T; Lai PS; Matsuo M; Takaoka Y; Nishio H Pediatr Int; 2012 Oct; 54(5):602-12. PubMed ID: 22507243 [TBL] [Abstract][Full Text] [Related]
58. [Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family]. Li W; Chen Q; Zhang Q; Li X; Du J Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):131-4. PubMed ID: 27060299 [TBL] [Abstract][Full Text] [Related]
59. A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. Kim DS; Kim EJ; Jung DS; Park KH; Kim IJ; Kwak KY; Kim CM; Ko HY J Korean Med Sci; 2002 Dec; 17(6):856-60. PubMed ID: 12483017 [TBL] [Abstract][Full Text] [Related]
60. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Koch MC; Ricker K; Otto M; Grimm T; Bender K; Zoll B; Harper PS; Lehmann-Horn F; Rüdel R; Hoffman EP Hum Genet; 1991 Nov; 88(1):71-4. PubMed ID: 1660029 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]