PhenomeGene — Human Disease Gene Website SeriesLAMC3

Management

Management is symptomatic and multidisciplinary. Neurological follow-up is recommended, particularly for epilepsy assessment and treatment. Brain MRI is essential to define the type and extent of cortical malformation. EEG should be performed in patients with seizures or suspected epileptic events. Antiseizure medication should be selected according to seizure type and clinical response; some patients may develop drug-resistant epilepsy and require referral to an epilepsy center. Neuropsychological evaluation, developmental assessment, speech therapy, occupational therapy, physiotherapy, educational support, and behavioral or psychiatric care should be considered according to individual needs. Ophthalmological or neuro-ophthalmological assessment may be useful, particularly in patients with occipital involvement or visual symptoms. Genetic counseling is recommended for families, as the condition is usually inherited in an autosomal recessive manner, with a 25% recurrence risk for carrier parents in each pregnancy.