Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.

ABSTRACT:

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 reported to be associated with human disease. In this study, we investigated the association between LAMA5 and epilepsy.

Methods

Trios-based whole-exome sequencing was performed in a cohort of 118 infants suffering from focal seizures with or without spasms. Protein modeling was used to assess the damaging effects of variations. The LAMAs</

SUBMITTER: Luo S 

PROVIDER: S-EPMC9162154 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature