Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review.

ABSTRACT: Background: Malformations of cortical development (MCDs) can lead to peculiar neuroradiological patterns and clinical presentations (i.e., seizures, cerebral palsy, and intellectual disability) according to the specific genetic pathway of the brain development involved; and yet a certain degree of phenotypic heterogeneity exists even when the same gene is affected. Here we report a man with an malformations of cortical development extending beyond occipital lobes associated with a novel stop-gain variant in LAMC3. Case presentation: The patient is a 28-year-old man suffering from drug-resistant epilepsy and moderate intellectual disability. He underwent a brain magnetic resonance imaging showing polymicrogyria involving occipital and temporal lobes bilaterally. After p

SUBMITTER: Falcicchio G 

PROVIDER: S-EPMC9852726 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature