Family Resources
Curated links, research tools, and community organizations to help you navigate a KCNMA1 diagnosis — whether you're newly diagnosed or years into the journey.
Start here
The two most important resources for families
Advocacy & Community
Organizations dedicated to KCNMA1 patients and families.
KCNMA1 Channelopathy — Facebook Advocacy Group
A private Facebook group where patients, parents, and caregivers connect, share experiences, ask questions, and support one another. A welcoming space for the global KCNMA1 community.
KCIAF / CORDs Patient Registry
The official patient registry for KCNMA1 Channelopathy, hosted by Sanford Health. Registering helps researchers understand the full spectrum of the condition.
Research & Science
Leading laboratories and publications advancing our understanding of KCNMA1 and the BK channel.
Meredith Lab — University of Maryland
Dr. Andrea Meredith's lab is a world leader in KCNMA1 channelopathy research. Studies BK channel biophysics, mouse models, and human genetic variation.
CRISPR mouse model study (eLife, 2022)
Landmark paper: CRISPR gene-editing produces the first allelic series for dyskinesia in KCNMA1 channelopathy. A major step toward understanding GOF variants.
Stimulant therapy for paroxysmal dyskinesia (2022)
University of Maryland study finding that stimulant medications may effectively treat movement symptoms in KCNMA1 channelopathy patients.
KCNMA1 in Human Disease Genes Repository
Comprehensive gene-level information about KCNMA1 variants, associated phenotypes, and links to published literature.
Diagnosis & Genetics
Tools and programs to help families pursue or confirm a genetic diagnosis.
NIH Undiagnosed Diseases Program (UDP)
For patients who remain undiagnosed after extensive evaluation. The UDP provides access to NIH clinical researchers and advanced diagnostic tools.
NINDS — National Institute of Neurological Disorders and Stroke
The primary NIH institute funding neurological rare disease research. Provides patient education and clinical trial information.
Media & Stories
Films, articles, and interviews that have brought KCNMA1 to a wider audience.
Netflix 'Diagnosis' — Episode 4
Dr. Meredith's KCNMA1 research is featured in this Netflix documentary series about rare and undiagnosed diseases. A powerful watch for newly diagnosed families.
New York Times 'Diagnosis' column
The story of a young girl with a KCNMA1 BK channel mutation, as featured in the NYT Magazine — the article that inspired the Netflix series.
Dr. Meredith interview — Ion Channel Library
An in-depth interview with Dr. Andrea Meredith about BK channel research and the path toward understanding KCNMA1 channelopathy.
Scientific Societies & Journals
Professional organizations and publications at the forefront of ion channel and rare disease research.
Society of General Physiologists
A leading scientific society for physiologists, including researchers studying ion channels and rare neurological conditions.
Journal of General Physiology
Peer-reviewed journal publishing foundational research on ion channels, including BK channel studies relevant to KCNMA1.
Biophysical Society
International society for biophysics research. Dr. Meredith received the 2021 Biophysical Society Award for the Biophysics of Health and Disease.
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