The main clinical features of LAMC3-related disorder include malformations of cortical development, most commonly bilateral occipital pachygyria and/or polymicrogyria. Epilepsy is frequent and may range from well-controlled seizures to drug-resistant epilepsy. Seizure semiology is variable and may include focal seizures, generalized seizures, absence seizures, myoclonic-atonic seizures, or seizures associated with visual symptoms. Developmental delay and intellectual disability are variable, ranging from absent or mild to moderate or severe impairment. Additional features reported in some patients include visual disturbances, behavioral or neuropsychiatric symptoms, motor delay, and cerebral malformations extending beyond the occipital lobes, including temporal polymicrogyria, frontal-only polymicrogyria, and posterior periventricular nodular heterotopia.
LAMC3