Biologyarticle2026-09-17

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

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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.

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View paper (DOI)OpenAlexEpileptic DisordersPublished 2026-09-17

Authors: Pablo Sebastián Fortini, Matías Juanes, Josefina Boero, Roberto Caraballo

Institutions: Centro Científico Tecnológico - Tucumán, Garrahan Hospital, National University of Tucumán