Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.
- DOI
- 10.1016/j.seizure.2025.03.014
- Published
- 2025 Jul
- Container
- Seizure
- Publisher
- Not recorded
- Open access
- no
Credibility signals
limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1016/j.seizure.2025.03.014,
title = {Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.},
author = {Bauer CK and Kortüm F and Möllring A and Grinstein L and Denecke J and Alawi M and Bähring R and Harms FL},
year = {2025},
journal = {Seizure},
doi = {10.1016/j.seizure.2025.03.014},
url = {https://doi.org/10.1016/j.seizure.2025.03.014}
}RIS
TY - JOUR TI - Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures. AU - Bauer CK AU - Kortüm F AU - Möllring A AU - Grinstein L AU - Denecke J AU - Alawi M AU - Bähring R AU - Harms FL PY - 2025 JO - Seizure DO - 10.1016/j.seizure.2025.03.014 UR - https://doi.org/10.1016/j.seizure.2025.03.014 ER -
APA
CK, B., F, K., A, M., L, G., J, D., M, A., R, B., & FL, H. (2025). Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures.. Seizure. https://doi.org/10.1016/j.seizure.2025.03.014
Source records
- pubmed · retrieved 2026-09-25T23:12:15.081Z
- europe-pmc · retrieved 2026-09-25T23:12:15.094Z