<i>De novo</i> missense variants of <i>UNC13A</i> are implicated in epileptic encephalopathies and neurodevelopmental disorders

Ke Su; Yu Ma; Mingshan Zhou; Yihan Liu; Chengjie Li; Yonghui Jiang; Qihui Wu; Gang Peng; Yi Wang; Shaohua Fan

doi:10.1016/j.gendis.2024.101315

| Sign up

PDF (1.2 MB)

Cite

EndNote(RIS) BibTeX

Collect

Submit Manuscript

Show Outline

Outline

References

Show full outline

Hide outline

Rapid Communication | Open Access

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

Ke Su^{^a^,¹}, Yu Ma^{^a^,¹}, Mingshan Zhou^{^a^,¹}, Yihan Liu^{^b}, Chengjie Li^{^b}, Yonghui Jiang^{^c}, Qihui Wu^{^b}(), Gang Peng^{^a}(), Yi Wang^{^a}(), Shaohua Fan^{^a}()

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.

Show Author Information

References

Hunter SE, Jalazo E, Felton TR, Heinzen EL, Shiloh-Malawsky Y. Epilepsy genetics: Advancements in the field and impact on clinical practice. In: Czuczwar SJ, ed. Epilepsy. Brisbane (AU): Exon Publications; April 2, 2022.

Crossref

Augustin I, Rosenmund C, Südhof TC, Brose N. Munc 13-1 is essential for fusion competence of glutamatergic synaptic vesicles. Nature. 1999;400(6743):457-461.

Crossref Google Scholar

Willemse SW, Harley P, van Eijk RPA, et al. UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target. J Neurol Neurosurg Psychiatry. 2023;94(8):649-656.

Crossref Google Scholar

Lipstein N, Verhoeven-Duif NM, Michelassi FE, et al. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder. J Clin Invest. 2017;127(3):1005-1018.

Crossref Google Scholar

Wang J, Qiao JD, Liu XR, et al. UNC13B variants associated with partial epilepsy with favourable outcome. Brain. 2021;144(10):3050-3060.

Crossref Google Scholar

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