408 related articles for article (PubMed ID: 24728418)
1. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Fukuyama M; Wang Q; Kato K; Ohno S; Ding WG; Toyoda F; Itoh H; Kimura H; Makiyama T; Ito M; Matsuura H; Horie M
Europace; 2014 Dec; 16(12):1828-37. PubMed ID: 24728418
[TBL] [Abstract][Full Text] [Related]
2. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current.
Landstrom AP; Boczek NJ; Ye D; Miyake CY; De la Uz CM; Allen HD; Ackerman MJ; Kim JJ
Int J Cardiol; 2016 Oct; 220():290-8. PubMed ID: 27390944
[TBL] [Abstract][Full Text] [Related]
3. Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhöner K; Friedrich C; Stallmeyer B; Coffey AJ; Grace A; Zumhagen S; Seebohm G; Ortiz-Bonnin B; Rinné S; Sachse FB; Schulze-Bahr E; Decher N
J Mol Cell Cardiol; 2015 Mar; 80():186-95. PubMed ID: 25633834
[TBL] [Abstract][Full Text] [Related]
4. Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
Boczek NJ; Miller EM; Ye D; Nesterenko VV; Tester DJ; Antzelevitch C; Czosek RJ; Ackerman MJ; Ware SM
Heart Rhythm; 2015 Jan; 12(1):211-9. PubMed ID: 25260352
[TBL] [Abstract][Full Text] [Related]
5. Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.
Kosaki R; Ono H; Terashima H; Kosaki K
Am J Med Genet A; 2018 Jul; 176(7):1657-1661. PubMed ID: 29736926
[TBL] [Abstract][Full Text] [Related]
6. A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
Ye D; Tester DJ; Zhou W; Papagiannis J; Ackerman MJ
Heart Rhythm; 2019 Feb; 16(2):270-278. PubMed ID: 30172029
[TBL] [Abstract][Full Text] [Related]
7. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.
Boczek NJ; Ye D; Jin F; Tester DJ; Huseby A; Bos JM; Johnson AJ; Kanter R; Ackerman MJ
Circ Arrhythm Electrophysiol; 2015 Oct; 8(5):1122-32. PubMed ID: 26253506
[TBL] [Abstract][Full Text] [Related]
8. Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.
Gao Y; Xue X; Hu D; Liu W; Yuan Y; Sun H; Li L; Timothy KW; Zhang L; Li C; Yan GX
Circ Arrhythm Electrophysiol; 2013 Jun; 6(3):614-22. PubMed ID: 23580742
[TBL] [Abstract][Full Text] [Related]
9. Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.
Nakajima T; Kawabata-Iwakawa R; Tamura S; Hasegawa H; Kobari T; Itoh H; Horie M; Nishiyama M; Kurabayashi M; Kaneko Y; Ishii H
PLoS One; 2022; 17(7):e0271796. PubMed ID: 35862440
[TBL] [Abstract][Full Text] [Related]
10. Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.
Hiippala A; Tallila J; Myllykangas S; Koskenvuo JW; Alastalo TP
Am J Med Genet A; 2015 Mar; 167A(3):629-34. PubMed ID: 25691416
[TBL] [Abstract][Full Text] [Related]
11. Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.
Seo SH; Kim SY; Cho SI; Park H; Lee S; Choi JM; Kim MJ; Lee JS; Ahn KJ; Song MK; Bae EJ; Park SS; Seong MW
Ann Lab Med; 2018 Jan; 38(1):54-58. PubMed ID: 29071820
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
Boczek NJ; Best JM; Tester DJ; Giudicessi JR; Middha S; Evans JM; Kamp TJ; Ackerman MJ
Circ Cardiovasc Genet; 2013 Jun; 6(3):279-89. PubMed ID: 23677916
[TBL] [Abstract][Full Text] [Related]
13. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.
Nishio Y; Makiyama T; Itoh H; Sakaguchi T; Ohno S; Gong YZ; Yamamoto S; Ozawa T; Ding WG; Toyoda F; Kawamura M; Akao M; Matsuura H; Kimura T; Kita T; Horie M
J Am Coll Cardiol; 2009 Aug; 54(9):812-9. PubMed ID: 19695459
[TBL] [Abstract][Full Text] [Related]
14. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A; Falcon-Eicher S; Laurent G; Villain E; Bonnet C; Thauvin-Robinet C; Jacquot C; Eicher JC; Gourraud JB; Schmitt S; Bézieau S; Giraud M; Dumont S; Kuentz P; Probst V; Burguet A; Kyndt F; Faivre L
Am J Med Genet A; 2017 Feb; 173(2):531-536. PubMed ID: 27868338
[TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotype of CACNA1C mutation disorders.
Gakenheimer-Smith L; Meyers L; Lundahl D; Menon SC; Bunch TJ; Sawyer BL; Tristani-Firouzi M; Etheridge SP
Mol Genet Genomic Med; 2021 Jun; 9(6):e1673. PubMed ID: 33797204
[TBL] [Abstract][Full Text] [Related]
16. Timothy syndrome 1 genotype without syndactyly and major extracardiac manifestations.
Sepp R; Hategan L; Bácsi A; Cseklye J; Környei L; Borbás J; Széll M; Forster T; Nagy I; Hegedűs Z
Am J Med Genet A; 2017 Mar; 173(3):784-789. PubMed ID: 28211989
[TBL] [Abstract][Full Text] [Related]
17. Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation).
Asad ZUA; Krishan S; Roman D; Yousaf AF; Stavrakis S
Am J Cardiol; 2023 Aug; 200():13-17. PubMed ID: 37271119
[TBL] [Abstract][Full Text] [Related]
18. Expression of a common LQT1 mutation in five apparently unrelated families in a regional inherited arrhythmia clinic.
Gray C; Gula LJ; Klein GJ; Skanes AC; Yee R; Sy R; Salisbury BA; Wong J; Chattha I; Subbiah RN; Krahn AD
J Cardiovasc Electrophysiol; 2010 Mar; 21(3):296-300. PubMed ID: 19817925
[TBL] [Abstract][Full Text] [Related]
19. A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.
Gershon ES; Grennan K; Busnello J; Badner JA; Ovsiew F; Memon S; Alliey-Rodriguez N; Cooper J; Romanos B; Liu C
Mol Psychiatry; 2014 Aug; 19(8):890-4. PubMed ID: 23979604
[TBL] [Abstract][Full Text] [Related]
20. Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site.
Mellor GJ; Panwar P; Lee AK; Steinberg C; Hathaway JA; Bartels K; Christian S; Balaji S; Roberts JD; Simpson CS; Boczek NJ; Tester DJ; Radbill AE; Mok NS; Hamilton RM; Kaufman ES; Eugenio PL; Weiss R; January C; McDaniel GM; Leather RA; Erickson C; Falik S; Behr ER; Wilde AAM; Sanatani S; Ackerman MJ; Van Petegem F; Krahn AD; Laksman Z
Europace; 2019 Nov; 21(11):1725-1732. PubMed ID: 31408100
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
