Finally, many LAMA2-CMD patients suffer from epileptic seizures and display a wide range of brain defects (white matter anomalies such as demyelination and cysts, increased water content in brain, abnormalities of cortical formation (neuron migration abnormalities), posterior fossa malformations, occipital malformations, cerebral hypoplasia)7,52,57, yet only blood-brain barrier defect has been clearly described in the dy3K/dy3K mouse model64. Here, LAMA2 is linked to Seizure.