This website provides information on patients with mutations in the LAMC3gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the LAMC3gene is a multisystem disorder characterized by malformations of cortical development, particularly affecting the occipital lobes. Clinical manifestations commonly include developmental delay, intellectual disability, epilepsy, and visual processing abnormalities of variable severity. The clinical presentation is highly variable and may range from severe neurodevelopmental impairment with refractory epilepsy to milder phenotypes with subtle cognitive or neurological manifestations.
Biallelic pathogenic variants in LAMC3are typically associated with the classical phenotype, whereas the clinical significance of heterozygous variants remains less clearly defined and may contribute to milder or incompletely penetrant presentations.
Not all individuals with a mutation in the LAMC3gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LAMC3gene.
Pasquale Striano, MD, PhD, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy, pstriano@unige.it
Giovanni Falcicchio, MD, Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari "Aldo Moro", Bari, Italy, gio.fal@hotmail.it
Lorenzo Perilli, MD, PhD, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy, dottorperilli@gmail.com; l.perilli@ucl.ac.uk