Koolen-de Vries syndrome: Epilepsy-associated features in a patient with a novel likely pathogenic KANSL1 single-nucleotide variant.
- DOI
- 10.1002/epd2.70384
- Published
- 2026 Sep 17
- Container
- Epileptic disorders : international epilepsy journal with videotape
- Publisher
- Not recorded
- Open access
- unknown
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.
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Cite this work
BibTeX
@article{allodium:10.1002/epd2.70384,
title = {Koolen-de Vries syndrome: Epilepsy-associated features in a patient with a novel likely pathogenic KANSL1 single-nucleotide variant.},
author = {Fortini S and Juanes M and Boero J and Caraballo R},
year = {2026},
journal = {Epileptic disorders : international epilepsy journal with videotape},
doi = {10.1002/epd2.70384},
url = {https://doi.org/10.1002/epd2.70384}
}RIS
TY - JOUR TI - Koolen-de Vries syndrome: Epilepsy-associated features in a patient with a novel likely pathogenic KANSL1 single-nucleotide variant. AU - Fortini S AU - Juanes M AU - Boero J AU - Caraballo R PY - 2026 JO - Epileptic disorders : international epilepsy journal with videotape DO - 10.1002/epd2.70384 UR - https://doi.org/10.1002/epd2.70384 ER -
APA
S, F., M, J., J, B., & R, C. (2026). Koolen-de Vries syndrome: Epilepsy-associated features in a patient with a novel likely pathogenic KANSL1 single-nucleotide variant.. Epileptic disorders : international epilepsy journal with videotape. https://doi.org/10.1002/epd2.70384
Source records
- pubmed · retrieved 2026-09-25T21:10:23.582Z