A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy

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 inLAMC3: c.3190C>T (p.Gln1064*). This finding extends the cortical phenotype associated withLAMC3 mutations.

Source: Neurogenetics - January 1, 2018 Category: Genetics & Stem Cells Source Type: research