Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

By I. Splawski, K. Timothy, Leah M. Sharpe, N. Decher, Pradeep Kumar, R. Bloise, C. Napolitano, P. Schwartz, R. Joseph, K. Condouris and 4 more. Cell, 2004

1,566 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/583cb6410c28053c1ec81c70363788da01f89f31

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In Cardiology and Cardiovascular Medicine

In Molecular Biology

Citations in the corpus

Long-QT syndrome: from genetics to management. (2012, background): “Patients with the severe JLN or TS often are not adequately protected by βblockers and require additional protection (5,26).”
Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice (2019, background): “…aberrant splicing in the PFC of mice include the calcium voltage-gated channel sub-unit Cacna1c , mutations in which can cause Timothy syndrome (Splawski et al., 2004); adnylsuccinate lyase Adsl that is associated with infantile autism (Sivendran et al., 2004); Pogz , associated with ASD and…”
Transcript expression-aware annotation improves rare variant discovery and interpretation (2019, background): “Path variants in the isoform that exhibits multi-tissue expression result in a multi-system disorder (5-7), w those on the isoform predominantly expressed in heart result in more severe and specific cardiac defe In addition, Mendelian variants have been found on tissue-specific isoforms (9, 10) and ”
ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (2006, neutral): “Sustained VT in infants may also be caused by hyperkalemia or associated with one of the LQTSs, particularly those forms with AV block or digital syndactyly.(790,1003,1004) There is considerable debate regarding the sudden infant death syndrome (SIDS) and potential role of the LQTS in causing some o”
The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential (2015, background): “The TS type 1 mutation is less sensitive to block by DHPs than wild-type channels (Splawski et al., 2004).”
Molecular physiology of cardiac repolarization. (2005, background): “2a (479) demonstrates, as likely would have been”
hERG potassium channels and cardiac arrhythmia (2006, background): “An exception is Timothy syndrome, a very rare and complex multi-organ disorder that is associated with congenital heart disease, extreme QT prolongation, severe and often lethal arrhythmia, syndactyly (where toes and fingers are partly fused), immune deficiency and autis”
From synapse to nucleus: calcium-dependent gene transcription in the control of synapse development and function. (2008, neutral): “2 gene in human cognitive development (Splawski et al., 2004).”
Neuronal voltage-gated calcium channels: structure, function, and dysfunction. (2014, background): “Mutations in the human CACNA1C gene have been linked to Timothy syndrome, a debilitating condition that includes mental retardation, lethal cardiac arrhythmias, various developmental abnormalities, and autism (Splawski et al., 2004, 2005).”