A novel mutation in <italic>LAMC3</italic> associated with generalized polymicrogyria of the cortex and epilepsy.

Occipital cortical malformation is a rare neurodevelopmental disorder characterized by pachygyria and polymicrogyria of the occipital lobes as well as global developmental delays and seizures. This condition is due to biallelic, loss-of-function mutations in <italic>LAMC3</italic> and has been reported in four unrelated families to date. We report an individual with global delays, seizures, and polymicrogyria that extends beyond the occipital lobes and includes the frontal, parietal, temporal, and occipital lobes. Next-generation sequencing identified a homozygous nonsense mutation in <italic>LAMC3</italic>: c.3190C>T (p.Gln1064*). This finding extends the cortical phenotype associated with <italic>LAMC3</italic> mutations. [ABSTRACT FROM AUTHOR]