Literature DB >> 16360093

Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy.

Shirley M Lo-A-Njoe1, Arthur A Wilde, Lieselot van Erven, Nico A Blom.   

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Year:  2005        PMID： 16360093     DOI： 10.1016/j.hrthm.2005.08.024

Source DB:  PubMed          Journal:  Heart Rhythm        ISSN： 1547-5271            Impact factor:   6.343


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  9 in total

1.  Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Authors:  Xiuhua Bozarth; Jennifer N Dines; Qian Cong; Ghayda M Mirzaa; Kimberly Foss; J Lawrence Merritt; Jenny Thies; Heather C Mefford; Edward Novotny
Journal:  Am J Med Genet A       Date:  2018-12-04       Impact factor: 2.802

2.  Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.

Authors:  Dan Han; Xiaolin Xue; Yang Yan; Guoliang Li
Journal:  Exp Biol Med (Maywood)       Date:  2019-07-19

3.  Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Authors:  Jane Gillis; Elena Burashnikov; Charles Antzelevitch; Susan Blaser; Gil Gross; Lesley Turner; Riyana Babul-Hirji; David Chitayat
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

4.  Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine.

Authors:  Serge Sicouri; Katherine W Timothy; Andrew C Zygmunt; Aaron Glass; Robert J Goodrow; Luiz Belardinelli; Charles Antzelevitch
Journal:  Heart Rhythm       Date:  2007-01-07       Impact factor: 6.343

Review 5.  Inherited arrhythmic disorders: long QT and Brugada syndromes.

Authors:  Amirali Nader; Ali Massumi; Jie Cheng; Mehdi Razavi
Journal:  Tex Heart Inst J       Date:  2007

Review 6.  Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.

Authors:  Qing Zhang; Junjie Chen; Yao Qin; Juejin Wang; Lei Zhou
Journal:  Channels (Austin)       Date:  2018       Impact factor: 2.581

Review 7.  Update on the Molecular Genetics of Timothy Syndrome.

Authors:  Rosemary Bauer; Katherine W Timothy; Andy Golden
Journal:  Front Pediatr       Date:  2021-05-17       Impact factor: 3.418

8.  Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.

Authors:  Hyo Soon An; Eun Young Choi; Bo Sang Kwon; Gi Beom Kim; Eun Jung Bae; Chung Il Noh; Jung Yun Choi; Sung Sup Park
Journal:  J Korean Med Sci       Date:  2013-05-02       Impact factor: 2.153

9.  Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).

Authors:  Sebastian Fröhler; Moritz Kieslich; Claudia Langnick; Mirjam Feldkamp; Bernd Opgen-Rhein; Felix Berger; Joachim C Will; Wei Chen
Journal:  BMC Med Genet       Date:  2014-04-29       Impact factor: 2.103
  9 in total

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