For researchers
Research Resources
We are committed to working with institutions and researchers that share reagents, biospecimens, cell lines, animal models, and data.
Rodent models
We are actively cataloging genetic mouse models being used to study KCNQ2-related disorders. Several lines have been highlighted in reviews1,2, but the list is always growing.
If you have (or know of) additional mouse lines that should be included, share them at [email protected].
iPSC lines
To support collaborative research efforts, we are continually compiling a list of KCNQ2 patient-derived iPSC lines. Where available, each entry includes:
- Donor information
- Variant
- Storage location
- Contact information
- Publications
COMBINEDBrain Biorepository
Through our partnership with COMBINEDBrain, KCNQ2 Cure Alliance has established a biorepository of whole blood, dried blood spot cards, urine, and plasma samples. We encourage families to attend COMBINEDBrain’s traveling roadshows, and expect the number of samples to keep growing.
25+
individuals with KCNQ2-related disorders and relative controls
20+
genetic variants represented
1.5–14
participant ages, in years
KCNQ2-DEE conceptual model
In 2023, 53 parents described to researchers what life with KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) looks like for their children. KCNQ2 Cure Alliance helped connect these families with the study. Their answers became a parent-informed conceptual model, published in 2025.3
Drug developers can use the model to decide what a treatment should improve and how to measure it in clinical trials.
53
parents interviewed
114
signs and daily limitations
14
areas of daily life
Gene information
KCNQ2
Potassium voltage-gated channel subfamily Q member 2
- Aliases
- BFNC, EBN1, Kv7.2, ENB1, KQT2
- Location
- 20q13.33
- Amino acids
- 872
- Exons
- 17
Databases
- NCBI Orthologs
- Leiden Open Variation Database
- OMIM Entry
- Simple ClinVar: gene- and disease-wise summary statistics from all ClinVar variants
References
- Brun et al. (2022). Epilepsia. doi:10.1111/epi.17405
- Hammer (2025). Bioscience Reports 45(10):567. portlandpress.com
- Potashman MH, Rudell K, Abetz-Webb L, et al. (2025). Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy. Epilepsy & Behavior 172:110670. doi:10.1016/j.yebeh.2025.110670
Correspondence
To suggest a resource, request access, or discuss collaboration, contact our research team.
[email protected]