A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associa...
A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain
About this item
Full title
Author / Creator
Gershon, E S , Grennan, K , Busnello, J , Badner, J A , Ovsiew, F , Memon, S , Alliey-Rodriguez, N , Cooper, J , Romanos, B and Liu, C
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Timothy Syndrome (TS) is caused by very rare exonic mutations of the
CACNA1C
gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrome is a long QT interval that results in car...
Alternative Titles
Full title
A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4151967
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4151967
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/mp.2013.107
