Functional Profiling of <i>KCNE1</i> Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2
Among 95 disease-associated or population KCNE1 variants, many exhibit abnormal functional properties without apparent dominant-negative behaviors. Using functional data, we inferred a population carrier frequency for recessive JLN2. This work helps clarify the pathogenicity of KCNE1 variants.
Authors
- Steven C. Hoffman (ORCID: https://orcid.org/0000-0003-1191-7263)
- Charles R. Sanders (ORCID: https://orcid.org/0000-0003-2046-2862)
- Alfred L. George (ORCID: https://orcid.org/0000-0002-3993-966X)
- Sneha Adusumilli (ORCID: https://orcid.org/0000-0003-0482-7147)
- Carlos G. Vanoye (ORCID: https://orcid.org/0000-0002-4935-1122)
- Nicolas Fink (ORCID: https://orcid.org/0000-0002-0860-5085)
- Nirvani Jairam (ORCID: https://orcid.org/0000-0002-9801-566X)
- Jordan John (ORCID: https://orcid.org/0000-0003-4981-5748)
- Omkar Venkatesh (ORCID: https://orcid.org/0000-0003-0596-5824)
- Jonathan Roe (ORCID: https://orcid.org/0000-0002-5715-2692)
- Yue Zhang (ORCID: https://orcid.org/0000-0002-3148-8833)
- ALLAN S. GORDON (ORCID: https://orcid.org/0000-0002-2058-7289)
- R. Desai (ORCID: https://orcid.org/0009-0002-7006-1418)
Institutions
- Northwestern University (US)
- Vanderbilt University (US)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-11-07
- DOI
- https://doi.org/10.1161/circgen.125.005219
- Citations
- 1
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 1.39