Management of ultrarare inherited arrhythmia syndromes
Ultrarare inherited arrhythmia syndromes are increasingly diagnosed due to increased
awareness as well as increased availability and reduced cost of genetic testing. Yet by …
awareness as well as increased availability and reduced cost of genetic testing. Yet by …
A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome
Abstract Timothy syndrome type 1 (TS1), a malignant variant of Long QT Syndrome, is
caused by L-type Ca2+ Channel (LTCC) inactivation defects secondary to the p. Gly406Arg …
caused by L-type Ca2+ Channel (LTCC) inactivation defects secondary to the p. Gly406Arg …
Phenotypic Characterization of Timothy Syndrome Caused by the CACNA1C p.Gly402Ser Variant
A Delinière, C Haddad, C Herrera-Siklódy… - Circulation: Genomic …, 2023 - Am Heart Assoc
Discovered in 1992, 1 Timothy syndrome (TS) is an extremely rare channelopathy
(estimated incidence of 1.5 in 108 live births2), resulting from a gain-offunction variant on …
(estimated incidence of 1.5 in 108 live births2), resulting from a gain-offunction variant on …
Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics
C Jiang, Y Zhang - Expert Reviews in Molecular Medicine, 2023 - cambridge.org
Timothy syndrome (TS), characterised by multiple system malfunction especially the
prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an …
prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an …
The neurophysiology of a mouse model of Timothy Syndrome
R Craddock - 2024 - orca.cardiff.ac.uk
Timothy syndrome (TS) is a multisystemic genetic disorder involving neuropsychiatric
symptoms. TS is caused by heterozygous functional mutations in the neurophysiologically …
symptoms. TS is caused by heterozygous functional mutations in the neurophysiologically …