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Article

Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy

19 May 2022

Abstract excerpt

Objective The LAMA5 gene encodes the laminin subunit α5, the most abundant laminin α subunit in the human brain. It forms heterotrimers with the subunit β1/β2 and γ1/γ3 and regulates neurodevelopmental processes. Genes encoding subunits of the laminin heterotrimers containing subunit α5 have been reported to be associated with human diseases. Among LAMAs encoding the laminin α subunit, LAMA1-4 have also been...

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PMID: 35663266
DOI: 10.3389/fnmol.2022.825390

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