A novel
CACNA1C
mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
HeartRhythm Case Rep
.
2018 Mar 31;4(7):273-277.
doi: 10.1016/j.hrcr.2018.03.003.
eCollection 2018 Jul.
Authors
Junichi Ozawa
1
2
,
Seiko Ohno
1
3
,
Hideki Saito
4
,
Akihiko Saitoh
2
,
Hiroshi Matsuura
5
,
Minoru Horie
1
Affiliations
1
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan.
2
Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
3
Center for Epidemiologic Research in Asia, Shiga University of Medical Science, Otsu, Japan.
4
Department of Cardiology, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.
5
Department of Physiology, Shiga University of Medical Science, Otsu, Japan.
PMID:
30023270
PMCID:
PMC6050422
DOI:
10.1016/j.hrcr.2018.03.003
No abstract available
Keywords:
Electrophysiology; Genetics; L-type calcium channel; Long QT syndrome; Timothy syndrome.
Publication types
Case Reports