Variants in CSMD2 and CSMD3 , genes involved in synaptogenesis, are associated with epilepsies

The CSMD genes are associated with epilepsies, CSMD2 with focal epilepsy/FCD, and CSMD3 with a phenotype spectrum that includes focal epilepsy, febrile seizures, and DEE. The distinct phenotypes of CSMD genes are explained by their features of genetic dependent stage and the development-dependent expression pattern of neuron specificity.