Occipital cortical malformation
Definition:
Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria. LAMC3 gene encodes the gamma 3 chain of the laminin family proteins, which play a crucial part in cell differentiation, migration, and adhesion.
References:
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[1]. Buse M Urgen, et al. Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks. Neuroimage. 2019 Apr 15;190:242-253. [Content Brief]
[2]. Tanyeri Barak, et al. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet. 2011 Jun;43(6):590-4. [Content Brief]
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