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

Rapid Communications

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

Su Ke
Ma Yu
Zhou Mingshan
Liu Yihan
Li Chengjie
Jiang Yonghui
Wu Qihui
Peng Gang
Wang Yi
Fan Shaohua
Genes & Diseases第12卷, 第2期纸质出版 2025-03-01在线发表 2024-05-06
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Epilepsy is a prevalent and serious neurological disorder affecting more than 65 million individuals worldwide. The etiology of epilepsy is multifaceted, with genetic factors implicated in 70%–80% of epilepsy cases, based on early twin or family-based studies. Despite over 1000 monogenic epilepsy-associated genes have been identified, the etiology for over 50% of epilepsy cases with suspected genetic risk remains undetermined in both clinical and research studies.1 UNC13A, a gene encoding the presynaptic protein Munc13-1, plays a crucial role in neurotransmitter release at synapses.2 Although UNC13A variants have been reported to be associated with various neurological disorders,3 their involvement in epilepsy remains uncertain.

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