De novo missense variants in <scp> <i>BAIAP2</i> </scp> are associated with developmental and epileptic encephalopathies
De novo variants in BAIAP2 represent a novel cause of DEEs. The functional consequences of these variants suggest that the gain of function of BAIAP2 can affect filopodia-lamellipodia formation, dendritic spine development, and synaptic transmission.
Authors
- Sorina Mihaela Papuc (ORCID: https://orcid.org/0000-0002-1352-3535)
- Anita M. Rauch (ORCID: https://orcid.org/0000-0003-2930-3163)
- Shangyu Wang (ORCID: https://orcid.org/0009-0004-9789-0325)
- Frances Elmslie (ORCID: https://orcid.org/0000-0002-2508-9107)
- Anaïs Begemann (ORCID: https://orcid.org/0000-0001-6762-0819)
- Bixia Zheng (ORCID: https://orcid.org/0000-0003-3457-6545)
- Chunli Wang
- René G. Feichtinger (ORCID: https://orcid.org/0000-0002-4215-8258)
- Johannes A. Mayr (ORCID: https://orcid.org/0000-0001-6970-336X)
- Lingling Xie (ORCID: https://orcid.org/0000-0002-8115-5068)
- Rami Abou Jamra (ORCID: https://orcid.org/0000-0002-1542-1399)
- Stefani Harmsen
- Gang Zhang (ORCID: https://orcid.org/0000-0002-5907-5803)
- Luyan Zhang (ORCID: https://orcid.org/0000-0002-0790-0277)
- Wei Zhou (ORCID: https://orcid.org/0000-0002-7972-4807)
- Ya-Ping Lu (ORCID: https://orcid.org/0000-0001-5371-0223)
- Johannes Koch (ORCID: https://orcid.org/0000-0002-2111-2226)
- Xiuxiu Liu (ORCID: https://orcid.org/0009-0002-8474-7621)
- Markus Zweier
- Aihua Zhang
- Luise Kulosik
- Mingying He
- Katharina Steindl
Institutions
- St George's, University of London (GB)
- University of Zurich (CH)
- Düsseldorf University Hospital (DE)
- Institutul National Victor Babes (RO)
- University Children's Hospital Zurich (CH)
- Second Affiliated Hospital of Nanjing Medical University (CN)
- Salzburger Landeskliniken (AT)
- Children's Hospital of Chongqing Medical University (CN)
- Ministry of Education and Child Care (CA)
- Heinrich Heine University Düsseldorf (DE)
- Nanjing Medical University (CN)
- Chongqing Medical University (CN)
- Leipzig University (DE)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-10-24
- DOI
- https://doi.org/10.1111/epi.18661
- Primary Topic
- 14-3-3 protein interactions
- Type
- article
- Field-Weighted Citation Impact
- 0.00