Abstract: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 genetic change on COL4A2 gene. The kainic acid (KA)-induced in vivo
model and lipopolysaccharide (LPS)-… Show more
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