A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
Ye, Dan
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel. [electronic resource] - Heart rhythm 02 2019 - 270-278 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1556-3871
10.1016/j.hrthm.2018.08.030 doi
Adolescent
Autism Spectrum Disorder--genetics
Bradycardia--diagnosis
Calcium Channels, L-Type--genetics
Cells, Cultured
DNA--genetics
DNA Mutational Analysis
Electrocardiography
Humans
Male
Mutation, Missense
Patch-Clamp Techniques
Pedigree
Romano-Ward Syndrome--diagnosis
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel. [electronic resource] - Heart rhythm 02 2019 - 270-278 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1556-3871
10.1016/j.hrthm.2018.08.030 doi
Adolescent
Autism Spectrum Disorder--genetics
Bradycardia--diagnosis
Calcium Channels, L-Type--genetics
Cells, Cultured
DNA--genetics
DNA Mutational Analysis
Electrocardiography
Humans
Male
Mutation, Missense
Patch-Clamp Techniques
Pedigree
Romano-Ward Syndrome--diagnosis