Research collaboration

Due to the rarity and phenotypic variability of LAMC3-related cortical malformations, international collaboration is needed to better define the clinical, neuroradiological, and molecular spectrum of the disorder.

Ongoing research aims may include collection of clinical data, seizure history, EEG findings, brain MRI patterns, neurodevelopmental outcomes, treatment response, and molecular data from individuals with biallelic pathogenic, likely pathogenic, or candidate LAMC3variants. Inclusion criteria may comprise patients with cortical malformations and homozygous or compound heterozygous LAMC3variants identified by gene panel, exome sequencing, or genome sequencing. Expected results include improved genotype-phenotype correlations, better characterization of epilepsy and developmental outcomes, identification of recurrent or population-specific variants, and development of evidence-based recommendations for diagnosis, management, and counseling.