A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
Sign Up to like & getrecommendations! Published in 2018 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2018.03.003
Abstract: Key Teaching Points • Electrocardiograms in patients with Timothy syndrome patients sometimes present T-wave depolarization pattern similar to long QT syndrome type 3, such as a late-onset peaked T wave. • We identified a novel… read more here.
Keywords: timothy syndrome; cacna1c mutation; novel cacna1c; without syndactyly ... See more keywords
A case report: Is mexiletine usage effective in the shortening of QTC interval and improving the T‐wave alternans in Timothy syndrome?
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Noninvasive Electrocardiology"
DOI: 10.1111/anec.12522
Abstract: Timothy syndrome (TS) is a multisystemic disease that occurs because of a mutation in CACN1C gene and is characterized by prolonged QT interval. Mexiletine is a Class 1B antiarrhythmic drug that causes the disappearance of… read more here.
Keywords: timothy syndrome; wave alternans; shortening qtc; case ... See more keywords
Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormalities
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DOI: 10.1111/ejn.13707
Abstract: Polymorphism in the gene CACNA1C, encoding the pore‐forming subunit of Cav1.2 L‐type calcium channels, has one of the strongest genetic linkages to schizophrenia, bipolar disorder and major depressive disorder: psychopathologies in which serotonin signaling has… read more here.
Keywords: timothy syndrome; serotonin; type; function ... See more keywords
Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2
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DOI: 10.3389/fphys.2019.00335
Abstract: Timothy syndrome (TS) is a very rare multisystem disorder almost exclusively associated with mutations G402S and G406R in helix IS6 of Cav1.2. Recently, mutations R518C/H in helix IIS0 of the voltage sensing domain II (VSD-II)… read more here.
Keywords: state; timothy syndrome; channel cav1; aid ... See more keywords