228 related articles for article (PubMed ID: 12766226)
1. Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Tsujino A; Maertens C; Ohno K; Shen XM; Fukuda T; Harper CM; Cannon SC; Engel AG
Proc Natl Acad Sci U S A; 2003 Jun; 100(12):7377-82. PubMed ID: 12766226
[TBL] [Abstract][Full Text] [Related]
2. A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
Webster R; Maxwell S; Spearman H; Tai K; Beckstein O; Sansom M; Beeson D
Brain; 2012 Apr; 135(Pt 4):1070-80. PubMed ID: 22382357
[TBL] [Abstract][Full Text] [Related]
3. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
Andreux F; Hantaï D; Eymard B
Rev Neurol (Paris); 2004 Feb; 160(2):163-76. PubMed ID: 15034473
[TBL] [Abstract][Full Text] [Related]
4. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.
Bendahhou S; Cummins TR; Hahn AF; Langlois S; Waxman SG; Ptácek LJ
J Clin Invest; 2000 Aug; 106(3):431-8. PubMed ID: 10930446
[TBL] [Abstract][Full Text] [Related]
5. 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
Neurology; 2016 Jan; 86(2):161-9. PubMed ID: 26659129
[TBL] [Abstract][Full Text] [Related]
6. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
Bendahhou S; Cummins TR; Tawil R; Waxman SG; Ptácek LJ
J Neurosci; 1999 Jun; 19(12):4762-71. PubMed ID: 10366610
[TBL] [Abstract][Full Text] [Related]
7. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
Jurkat-Rott K; Mitrovic N; Hang C; Kouzmekine A; Iaizzo P; Herzog J; Lerche H; Nicole S; Vale-Santos J; Chauveau D; Fontaine B; Lehmann-Horn F
Proc Natl Acad Sci U S A; 2000 Aug; 97(17):9549-54. PubMed ID: 10944223
[TBL] [Abstract][Full Text] [Related]
8. Myasthenic congenital myopathy from recessive mutations at a single residue in Na
Elia N; Palmio J; Castañeda MS; Shieh PB; Quinonez M; Suominen T; Hanna MG; Männikkö R; Udd B; Cannon SC
Neurology; 2019 Mar; 92(13):e1405-e1415. PubMed ID: 30824560
[TBL] [Abstract][Full Text] [Related]
9. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
Gomez CM; Maselli RA; Vohra BP; Navedo M; Stiles JR; Charnet P; Schott K; Rojas L; Keesey J; Verity A; Wollmann RW; Lasalde-Dominicci J
Ann Neurol; 2002 Jan; 51(1):102-12. PubMed ID: 11782989
[TBL] [Abstract][Full Text] [Related]
10. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.
Arnold WD; Feldman DH; Ramirez S; He L; Kassar D; Quick A; Klassen TL; Lara M; Nguyen J; Kissel JT; Lossin C; Maselli RA
Ann Neurol; 2015 May; 77(5):840-50. PubMed ID: 25707578
[TBL] [Abstract][Full Text] [Related]
11. A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.
Alekov A; Rahman MM; Mitrovic N; Lehmann-Horn F; Lerche H
J Physiol; 2000 Dec; 529 Pt 3(Pt 3):533-9. PubMed ID: 11118488
[TBL] [Abstract][Full Text] [Related]
12. Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.
Shen XM; Ohno K; Sine SM; Engel AG
Brain; 2005 Feb; 128(Pt 2):345-55. PubMed ID: 15615813
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.
Wu FF; Gordon E; Hoffman EP; Cannon SC
J Physiol; 2005 Jun; 565(Pt 2):371-80. PubMed ID: 15774523
[TBL] [Abstract][Full Text] [Related]
15. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.
Sternberg D; Maisonobe T; Jurkat-Rott K; Nicole S; Launay E; Chauveau D; Tabti N; Lehmann-Horn F; Hainque B; Fontaine B
Brain; 2001 Jun; 124(Pt 6):1091-9. PubMed ID: 11353725
[TBL] [Abstract][Full Text] [Related]
16. Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Yasaki E; Prioleau C; Barbier J; Richard P; Andreux F; Leroy JP; Dartevelle P; Koenig J; Molgó J; Fardeau M; Eymard B; Hantaï D
Neuromuscul Disord; 2004 Jan; 14(1):24-32. PubMed ID: 14659409
[TBL] [Abstract][Full Text] [Related]
17. Novel congenital myasthenic syndromes associated with defects in quantal release.
Milone M; Fukuda T; Shen XM; Tsujino A; Brengman J; Engel AG
Neurology; 2006 Apr; 66(8):1223-9. PubMed ID: 16525123
[TBL] [Abstract][Full Text] [Related]
18. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man.
Alekov AK; Rahman MM; Mitrovic N; Lehmann-Horn F; Lerche H
Eur J Neurosci; 2001 Jun; 13(11):2171-6. PubMed ID: 11422459
[TBL] [Abstract][Full Text] [Related]
19. Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
Jarecki BW; Sheets PL; Jackson JO; Cummins TR
J Physiol; 2008 Sep; 586(17):4137-53. PubMed ID: 18599537
[TBL] [Abstract][Full Text] [Related]
20. [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
Wu L; Wu W; Yan G; Wang X; Liu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Dec; 25(6):629-32. PubMed ID: 19065518
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]