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.

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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
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article

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies

Sorina Mihaela Papuc, Anita M. Rauch, Shangyu Wang, Frances Elmslie et al.
Epilepsia
14-3-3 protein interactions
article

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies

Sorina Mihaela Papuc, Anita M. Rauch, Shangyu Wang, Frances Elmslie, Anaïs Begemann, Bixia Zheng, Chunli Wang, René G. Feichtinger, Johannes A. Mayr, Lingling Xie, Rami Abou Jamra, Stefani Harmsen, Gang Zhang, Luyan Zhang, Wei Zhou, Ya-Ping Lu, Johannes Koch, Xiuxiu Liu, Markus Zweier, Aihua Zhang, Luise Kulosik, Mingying He, Katharina Steindl
article en

Abstract

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.

EpilepsiaVol. 67(1)
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)
Openalex Percentile: Top 73%
14-3-3 protein interactions
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