| D008133 |
Long QT Syndrome |
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME. |
Electrocardiogram QT Prolonged |
|
| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000072237 |
ERG1 Potassium Channel |
One of three members of the ether-a-go-go (EAG) POTASSIUM CHANNELS gene family comprising ether-a-go-go (eag), eag-like (elk) and eag-related (erg) subfamilies. Ether-a-go-go-related gene 1 (ERG1) also known as KCNH2, encodes the pore-forming subunit of a rapidly activating-delayed rectifier potassium channel that plays an essential role in the final repolarization of ventricular action potential. Loss-of-function mutations in human hERG1 is associated with life-threatening ARRHYTHMIA. |
Ether-A-Go-Go-Related Potassium Channel 1,Kv11.1 Protein-Potassium Channel,Potassium Voltage-Gated Channel, Subfamily H, Member 2,Channel, ERG1 Potassium,Channel, Kv11.1 Protein-Potassium,Ether A Go Go Related Potassium Channel 1,Kv11.1 Protein Potassium Channel,Potassium Channel, ERG1,Protein-Potassium Channel, Kv11.1 |
|
| D014421 |
Turkey |
Country in Southeastern Europe and Southwestern Asia bordering the Black Sea, between Bulgaria and Georgia, and bordering the Aegean Sea and the Mediterranean Sea, between Greece and Syria. The capital is Ankara. |
Turkiye |
|
| D051657 |
KCNQ1 Potassium Channel |
A voltage-gated potassium channel that is expressed primarily in the HEART. |
KCNQ1 Protein,KVLQT1 Protein,Kv7.1 Potassium Channel,Voltage-Gated K+ Channel KCNQ1,Potassium Channel, KCNQ1,Potassium Channel, Kv7.1,Voltage Gated K+ Channel KCNQ1 |
|
| D062554 |
NAV1.5 Voltage-Gated Sodium Channel |
A voltage-gated sodium channel subtype that mediates the sodium ion PERMEABILITY of CARDIOMYOCYTES. Defects in the SCN5A gene, which codes for the alpha subunit of this sodium channel, are associated with a variety of CARDIAC DISEASES that result from loss of sodium channel function. |
Voltage-Gated Sodium Channel Type 5 Subunit alpha,SCN5A Sodium Channel alpha Subunit,Sodium Channel Protein Type 5 Subunit alpha,Sodium Channel, Voltage-Gated, Type V, alpha Subunit,Type 5 Voltage-Gated Sodium Channel,Voltage-Gated Na+ Channel Na(v)1.5a,Voltage-Gated Sodium Channel Type 5,NAV1.5 Voltage Gated Sodium Channel,Type 5 Voltage Gated Sodium Channel,Voltage Gated Sodium Channel Type 5,Voltage Gated Sodium Channel Type 5 Subunit alpha |
|
| D020746 |
Calcium Channels, L-Type |
Long-lasting voltage-gated CALCIUM CHANNELS found in both excitable and non-excitable tissue. They are responsible for normal myocardial and vascular smooth muscle contractility. Five subunits (alpha-1, alpha-2, beta, gamma, and delta) make up the L-type channel. The alpha-1 subunit is the binding site for calcium-based antagonists. Dihydropyridine-based calcium antagonists are used as markers for these binding sites. |
Dihydropyridine Receptors,L-Type Calcium Channels,L-Type VDCC alpha-1 Subunit,L-Type Voltage-Dependent Calcium Channel,Long-Lasting Calcium Channel,Long-Lasting Calcium Channels,Receptors, Dihydropyridine,Dihydropyridine Receptor,L-Type Calcium Channel,L-Type VDCC,L-Type VDCC alpha-2 Subunit,L-Type VDCC beta Subunit,L-Type VDCC delta Subunit,L-Type VDCC gamma Subunit,L-Type Voltage-Dependent Calcium Channels,Calcium Channel, L-Type,Calcium Channel, Long-Lasting,Calcium Channels, L Type,Calcium Channels, Long-Lasting,Channel, Long-Lasting Calcium,L Type Calcium Channel,L Type Calcium Channels,L Type VDCC,L Type VDCC alpha 1 Subunit,L Type VDCC alpha 2 Subunit,L Type VDCC beta Subunit,L Type VDCC delta Subunit,L Type VDCC gamma Subunit,L Type Voltage Dependent Calcium Channel,L Type Voltage Dependent Calcium Channels,Long Lasting Calcium Channel,Long Lasting Calcium Channels,Receptor, Dihydropyridine,VDCC, L-Type |
|
| D024661 |
Potassium Channels, Inwardly Rectifying |
Potassium channels where the flow of K+ ions into the cell is greater than the outward flow. |
Inward Rectifier Potassium Channels,IRK1 Channel,Inward Rectifier K+ Channel,Inward Rectifier K+ Channels,Inward Rectifier Potassium Channel,Inwardly Rectifying Potassium Channel,Inwardly Rectifying Potassium Channels,K+ Channels, Inwardly Rectifying,Potassium Channel, Inwardly Rectifying,Channel, IRK1 |
|