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Variants in CSMD2 and CSMD3 , genes involved in synaptogenesis, are associated with epilepsies

9 Jul 2025

Abstract excerpt

OBJECTIVE: The CSMD genes, including CSMD1, CSMD2, and CSMD3, encoding synaptic transmembrane proteins, play important roles in neuronal maturation, growth of dendrites, and processes of synapses. Our recent study showed that CSMD1 was associated with developmental epileptic encephalopathy (DEE) and generalized epilepsy. The significance of CSMD2 and CSMD3 in human disease is unknown. METHODS: Trio-based...

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Epilepsy research and treatment
Glioma Diagnosis and Treatment
Neuroscience and Neuropharmacology Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40632521
DOI: 10.1111/epi.18539

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