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KCNMA1 - linked channelopathy

What is KCNMA1 - linked channelopathy?

Kcnma1 is a disorder that causes generalized epilepsy, dyskinesia, developmental delays, tremors, heart issues, gi tract issues and more. 

 

Kcnma1 is a disorder that causes generalized epilepsy, dyskinesia, developmental delays, tremors, heart issues, gi tract issues and more. 

Acknowledgement of KCNMA1 - linked channelopathy has not been added yet.
Prevalence Information of KCNMA1 - linked channelopathy has not been added yet.
Synonyms for KCNMA1 - linked channelopathy has not been added yet.
Cause of KCNMA1 - linked channelopathy has not been added yet.

Epilepsy, dyskinesia, developmental delays, ataxia, tremors, heart irregularities, bladder issues, gi tract issues,

Diagnosis of KCNMA1 - linked channelopathy has not been added yet.

Kcnma1 can be found in genetic testing such as dyskinesia and epilepsy panels.  Of course a full genome sequencing will find changes within kcnma1 as well.

Treatment is patient to patient based. There is no known treatment for all patients. For exapmle some respond well to keppra and others get worse. Epilepsy associated with this disorder is very difficult to treat. 

Many studies are underway for patients with KCNMA1.  Please visit KCIAF.org for all current news and research thats ongoing. 

Tips or Suggestions of KCNMA1 - linked channelopathy has not been added yet.

KCIAF.org is a non profit dedicated to family and patients with KCNMA1 diagnosis. 

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Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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