Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant
The authors declare no conflicts of interest. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Data S1: Educational_slides. Data S2: Test_Yourself_Answers. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Authors
- Matías Juanes (ORCID: https://orcid.org/0000-0002-8840-0775)
- Roberto Caraballo (ORCID: https://orcid.org/0000-0003-0259-1046)
- Pablo Sebastián Fortini (ORCID: https://orcid.org/0000-0002-7009-3607)
- Josefina Boero
Institutions
- National University of Tucumán (AR)
- Garrahan Hospital (AR)
- Centro Científico Tecnológico - Tucumán (AR)
Publication Details
- Journal
- Epileptic Disorders
- Published
- 2026-09-17
- DOI
- https://doi.org/10.1002/epd2.70384
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00