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.

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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
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article

Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant

Matías Juanes, Roberto Caraballo, Pablo Sebastián Fortini, Josefina Boero
Epileptic Disorders
Genomic variations and chromosomal abnormalities
article

Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant

Matías Juanes, Roberto Caraballo, Pablo Sebastián Fortini, Josefina Boero
article en

Abstract

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.

Epileptic Disorders
National University of Tucumán (AR), Garrahan Hospital (AR), Centro Científico Tecnológico - Tucumán (AR)
Openalex Percentile: Top 12%
Genomic variations and chromosomal abnormalities
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Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant — Matías Juanes, Roberto Caraballo, et al. · Epileptic Disorders (2026) | TGRS Research Map | TGRS