Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures
Our results propose KCNH3, which is primarily expressed in the nervous system, as a new disease gene associated with a neurodevelopmental phenotype including seizures.
Authors
- Robert Bähring (ORCID: https://orcid.org/0000-0002-0406-5958)
- Lev Grinstein
- Jonas Denecke (ORCID: https://orcid.org/0000-0002-8228-4013)
- Frederike L. Harms (ORCID: https://orcid.org/0000-0003-2610-0600)
- Anna Möllring
- Christiane K. Bauer (ORCID: https://orcid.org/0000-0002-2078-3503)
- Malik Alawi (ORCID: https://orcid.org/0000-0002-5993-7709)
- Fanny Kortüm
Institutions
- Universität Hamburg (DE)
- University Medical Center Hamburg-Eppendorf (DE)
Publication Details
- Journal
- Seizure
- Published
- 2025-03-20
- DOI
- https://doi.org/10.1016/j.seizure.2025.03.014
- Citations
- 2
- Primary Topic
- Ion channel regulation and function
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Deutsche Forschungsgemeinschaft