Children born with a KCNT1 de novo gene mutation have no chance of any physical and cognitive development in their lives. To date, journal articles from known cases (about 100 worldwide) show that all patients are bedridden and that life expectancy is not very high. The misinformation / mutation on the KCNT1 gene causes potassium channels in individual nerve cells to pass too much potassium. This leads to seizures (epileptic seizures), usually several times a day. As rare as this disease is (ultra rare disease), there are over 10 different mutations. The mutation with the worst effect leads to 22times of the normal amount of potassium passing through the potassium channels.
Valeria has this type of mutation.
One purpose of our organization is to get the pharmaceutical and biotech industry to launch research projects to cure rare diseases.
One purpose of our organization is to bring together the right people to jointly develop ideas for research projects with the aim of curing rare diseases.
One purpose of our organization is to support affected families.