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Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A, Calorio C, Hidisoglu E, Chiantia G, Carbone E. Marcantoni A, et al. Pflugers Arch. 2020 Jul;472(7):775-789. doi: 10.1007/s00424-020-02430-0. Epub 2020 Jul 3. Pflugers Arch. 2020. PMID: 32621084 Free article. Review.
De novo mutations in the gene encoding Cav1.2 (CACNA1C) causes two forms of Timothy syndrome (TS1, TS2), characterized by a multisystem disorder inclusive of cardiac arrhythmias, long QT, autism, and adrenal gland dysfunction. ...Briefly, we will also discuss possib …
De novo mutations in the gene encoding Cav1.2 (CACNA1C) causes two forms of Timothy syndrome (TS1, TS2), characterized by a mu …
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.
Colson C, Mittre H, Busson A, Leenhardt A, Denjoy I, Fressard V, Troadec Y. Colson C, et al. Eur J Med Genet. 2019 Jul;62(7):103648. doi: 10.1016/j.ejmg.2019.04.005. Epub 2019 Apr 16. Eur J Med Genet. 2019. PMID: 30998997 Review.
CANAC1C encodes for the main cardiac L-type calcium channel and mutations on it lead to a prolonged QT interval in Timothy Syndrome (TS). ...Theses clinical and molecular findings expand the clinical and molecular spectrum of TS and show the interest of next …
CANAC1C encodes for the main cardiac L-type calcium channel and mutations on it lead to a prolonged QT interval in Timothy …