Sodium Channelopathies
Sodium channelopathies are genetic disorders caused by mutations in the genes that encode sodium channels, which are essential for the proper functioning of nerve and muscle cells. These channels help generate and transmit electrical signals in the body. When they malfunction, it can lead to various health issues, including epilepsy, cardiac arrhythmias, and muscle disorders.
Symptoms of sodium channelopathies can vary widely depending on the specific condition and affected tissues. For example, some individuals may experience seizures, while others may have muscle weakness or heart problems. Diagnosis often involves genetic testing and clinical evaluation to identify the specific sodium channel involved, such as SCN1A or SCN5A.