Article

<i>MDGA2</i> homozygous loss-of-function variants cause developmental and epileptic encephalopathy

2025-08-28

Abstract excerpt

<h4>Summary</h4> MDGA2 encodes a membrane-associated protein that is critical for regulating glutamatergic synapse development, modulating neuroligins (Nlgns), and maintaining the balance between excitatory and inhibitory synapses. Although MDGA2 has been extensively studied in murine and cellular models, its association with human developmental disorders has not been established to date. Through exome sequencing...

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Literature Corpus work: 3efec764-6512-5477-a289-ec19931e21ed
DOI: 10.1101/2025.08.28.25330873

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