A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000680
Abstract: Objective In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (LAMC3) gene with unreported… read more here.
Keywords: malformation; cortical malformation; new case; variants lamc3 ... See more keywords
Variants in LAMC3 Causes Occipital Cortical Malformation
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.616761
Abstract: Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures. The recessive or complex heterozygous variants of the LAMC3 gene… read more here.
Keywords: cortical malformation; variants lamc3; lamc3 gene; occipital cortical ... See more keywords