How specific BK (KCNMA1) channel changes relate to absence seizures and other neurological symptoms
A molecular dissection of BK channelopathy in neurological disorders
['FUNDING_R01'] · WASHINGTON UNIVERSITY · NIH-11323576
This project looks at how three specific genetic changes in the BK (KCNMA1) potassium channel alter brain cell activity and behavior in people with absence seizures and related neurological problems.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WASHINGTON UNIVERSITY (nih funded) |
| Locations | 1 site (SAINT LOUIS, UNITED STATES) |
| Trial ID | NIH-11323576 on ClinicalTrials.gov |
What this research studies
Researchers will compare three gain-of-function KCNMA1 variants (D434G, A532V, N536H) to see how each changes the BK channel at a molecular level. They will record how these changes affect neuronal firing and synaptic activity in cells. The team will create knock-in mice carrying each human variant to study resulting behaviors and seizure-related patterns. They will also design and test variant-specific compounds that could mimic or counteract the channel changes to guide future personalized treatments.
Who could benefit from this research
Good fit: People with absence seizures or related neurological symptoms who have a confirmed KCNMA1 (BK channel) variant—especially D434G, A532V, or N536H—or who have unexplained genetic findings in KCNMA1.
Not a fit: Patients whose seizures are not linked to KCNMA1 gene changes or who have unrelated causes of epilepsy are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could clarify which KCNMA1 variants cause specific symptoms and point toward variant-tailored treatments for people with KCNMA1-related absence seizures.
How similar studies have performed: Previous publications and preliminary work show these variants alter BK channel gating, but testing variant-specific therapies is a newer, less-explored step built on that groundwork.
Where this research is happening
SAINT LOUIS, UNITED STATES
- WASHINGTON UNIVERSITY — SAINT LOUIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CUI, JIANMIN — WASHINGTON UNIVERSITY
- Study coordinator: CUI, JIANMIN
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Absence Seizure Disorder