Hypokalemic periodic paralysis
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs121908555 | 3 |
| rs141204958 | 0 |
| rs2297902 | 0 |
| rs527236148 | 0 |
| rs527236149 | 0 |
| rs527236150 | 0 |
| rs80338784 | 3 |
| rs80338785 | 3 |
| rs80338788 | 3 |
| rs80338789 | 0 |
Hypokalemic periodic paralysis (hypoKPP) is a rare, autosomal dominant disorder characterized by muscle weakness or paralysis with a matching fall in potassium levels in the blood (primarily due to defect in a voltage-gated calcium channel). In individuals with this mutation, attacks often begin in adolescence and are triggered by strenuous exercise followed by rest, high carbohydrate meals, meals with high sodium content, sudden changes in temperature, and even excitement, noise, flashing lights and induced by cold temperatures. Weakness may be mild and limited to certain muscle groups, or more severe full body paralysis. Attacks may last for a few hours or persist for several days. Recovery is usually sudden when it occurs, due to release of potassium from swollen muscles as they recover.Wikipedia
Variants in at least two genes encoding ion channel proteins have been associated with hypokalemic periodic paralysis: CACNA1S and SCN4A. The SNPs in SNPedia associated with these genes and hypoKPP include:
- in the CACNA1S gene:
- in the SCN4A gene:
