You Are Not Alone
KCNMA1-linked Channelopathy is rare — but the community fighting for answers is growing every day. Together, we find each other, share what we know, and keep hope alive.
Understanding the condition
What is KCNMA1-linked Channelopathy?
KCNMA1-linked Channelopathy is a rare genetic disorder caused by mutations in the KCNMA1 gene, which encodes the BK channel — a critical protein that regulates electrical activity in neurons and muscle cells. This can affect movement, development, and neurological function in different ways for each person.
KCNMA1 Channelopathy is ultra-rare, with only a few hundred diagnosed cases globally.
The condition was first formally described in medical literature in 2015, making it newly recognized.
Mutations affect the BK (Big Potassium) channel, which plays a key role in brain and muscle function.
Community voices
Families Finding Strength Together
"When Alli was diagnosed there was only 16 other people in the entire world with her disorder. It was scary to have doctors tell you they didn't know how to help. Finding others with her rare disease was the only way to find treatments and families that understood our struggles."
Sarah & Lily
"The resources here helped us ask the right questions at our next neurology appointment. Knowledge is power when you're navigating a rare diagnosis."
Marcus & Theo
"I never thought I'd find another parent who knew exactly what a KCNMA1 diagnosis meant. This community gave us hope and a path forward."
Elena & Sofia
Get involved
How You Can Help
Every action — no matter how small — moves us closer to answers and better lives for those affected.
Share Your Story
Your experience matters. Sharing your journey helps other families feel less alone and builds the evidence base for research.
Tell Your StoryFind a Specialist
Connect with neurologists and geneticists who have experience with KCNMA1 and rare channelopathies.
Find SpecialistsSupport Research
Help fund the science that will lead to better treatments and, one day, a cure for KCNMA1-linked Channelopathy.
Support ResearchFinding Each Other. Fighting Together.
No family should navigate a rare diagnosis alone. Join our growing community of parents, patients, and advocates working toward a brighter future.