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7. 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]
8. Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome. Birey F; Li MY; Gordon A; Thete MV; Valencia AM; Revah O; Paşca AM; Geschwind DH; Paşca SP Cell Stem Cell; 2022 Feb; 29(2):248-264.e7. PubMed ID: 34990580 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2? Diep V; Seaver LH Am J Med Genet A; 2015 Nov; 167A(11):2780-5. PubMed ID: 26227324 [TBL] [Abstract][Full Text] [Related]
13. Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine. Hermida A; Jedraszak G; Kubala M; Mathiron A; Berna P; Bennis Y; Hermida JS Gene; 2021 Apr; 777():145465. PubMed ID: 33524520 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Unusual retrospective prenatal findings in a male newborn with Timothy syndrome type 1. Corona-Rivera JR; Barrios-Prieto E; Nieto-García R; Bloise R; Priori S; Napolitano C; Bobadilla-Morales L; Corona-Rivera A; Zapata-Aldana E; Peña-Padilla C; Rivera-Vargas J; Chavana-Naranjo E Eur J Med Genet; 2015; 58(6-7):332-5. PubMed ID: 25882468 [TBL] [Abstract][Full Text] [Related]
17. Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. Etheridge SP; Bowles NE; Arrington CB; Pilcher T; Rope A; Wilde AA; Alders M; Saarel EV; Tavernier R; Timothy KW; Tristani-Firouzi M Am J Med Genet A; 2011 Oct; 155A(10):2578-83. PubMed ID: 21910241 [TBL] [Abstract][Full Text] [Related]
18. 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]