Article

A new identified COL4A2 mutation contributes to astrocyte activation by activating JAK/STAT signaling in epilepsy

2022-12-09

Abstract excerpt

COL4A2 is the encoding gene of the α2 chains of type IV collagen, and missense mutations of COL4A2 is correlated with multiple diseases. However, the association of COL4A2 mutations with epilepsy remains elusive. Here, we aimed to explore the function of COL4A2 mutations in the development of epilepsy. We performed a full spectrum of family-enhanced whole-exome sequencing on a family lineage and examined the genet...

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Literature Corpus work: 1232d29e-3e53-5716-9fc1-05666d8560cb
DOI: 10.22541/au.167061325.53130667/v1

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