Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 22 for altered potassium channel function
  1. KCNB1 encephalopathy 
    ... mutations that cause KCNB1 encephalopathy lead to an altered protein that results in impaired Kv2.1 channel function. As a result, the channels cannot regulate the flow of potassium ions in neurons, which disrupts normal communication between ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. Cantú syndrome 
    ... closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the ... is inherited in an autosomal dominant pattern, which means one copy of the altered ABCC9 gene in each cell is sufficient to ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  3. Potassium-aggravated myotonia 
    ... the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate ion flow, increasing the movement of sodium ions into skeletal muscle cells. When excess potassium is present in the body, which occurs after ...
    https://medlineplus.gov/.../condition/potassium-aggravated-myotonia - Genetics
  4. Hyperkalemic periodic paralysis 
    ... the SCN4A gene alter the usual structure and function of sodium channels. ... release of potassium from muscle cells, which causes more sodium channels ...
    https://medlineplus.gov/.../hyperkalemic-periodic-paralysis - Genetics
  5. Andersen-Tawil syndrome 
    ... the KCNJ2 gene alter the usual structure and function of these potassium channels. These changes disrupt the flow of potassium ions ... suggest that variations in at least one other potassium channel gene may underlie the disorder in some of these affected individuals. ... condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  6. Benign familial neonatal seizures 
    ... Taglialatela M. Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. J Neurosci. 2002 Jan 15;22(2):RC199. ...
    https://medlineplus.gov/.../benign-familial-neonatal-seizures - Genetics
  7. KCNK9 imprinting syndrome 
    ... instructions for making a protein called TASK3, which functions as a potassium channel. Potassium channels transport positively charged atoms (ions) of ...
    https://medlineplus.gov/genetics/condition/kcnk9-imprinting-syndrome - Genetics
  8. Familial hyperaldosteronism 
    ... gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms ( ...
    https://medlineplus.gov/.../condition/familial-hyperaldosteronism - Genetics
  9. Malignant migrating partial seizures of infancy 
    ... alter the KCNT1 protein. Electrical currents generated by potassium channels made with the altered KCNT1 protein are abnormally increased, which allows unregulated ...
    https://medlineplus.gov/...ant-migrating-partial-seizures-of-infancy - Genetics
  10. Bart-Pumphrey syndrome 
    ... amino acids) in the connexin 26 protein. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by ... in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause ...
    https://medlineplus.gov/genetics/condition/bart-pumphrey-syndrome - Genetics
previous · 1 · 2 · 3 · next