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Rapid Communication | Open Access

De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders

Ke Sua,1, Yu Maa,1, Mingshan Zhoua,1, Yihan Liub, Chengjie Lib, Yonghui Jiangc, Qihui Wub( ), Gang Penga( ), Yi Wanga( ), Shaohua Fana( )
Division of Neurology, Children’s Hospital of Fudan University, State Key Laboratory of Genetic Engineering, Human Phenome Institute and School of Life Sciences, Institute of Brain Science of Fudan University, Shanghai 200438, China
Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai Fourth People’s Hospital Affiliated to Tongji University School of Medicine, Shanghai 200434, China
Department of Genetics, Neuroscience, and Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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References

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Genes & Diseases
Volume 12 Issue 2,
March 2025
Article number: 101315
DOI: 10.1016/j.gendis.2024.101315
Cite this article:
Su K, Ma Y, Zhou M, et al. De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders. Genes & Diseases, 2025, 12(2): 101315. https://doi.org/10.1016/j.gendis.2024.101315

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Received: 29 November 2023
Published: 06 May 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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