#CSMD1 is identified as a novel causative gene in generalized epilepsies and #DEE, with strong genotype–phenotype and severity correlations, offering new insights for diagnosis, prognosis, and clinical management of #epilepsy patients.

#OpenAccess: doi.org/10.1016/j.ge...

This study identifies #CSMD1 as a potentially novel causative gene associated with #DevelopmentalAndEpilepticEncephalopathy and generalized #Epilepsy employing a trio-based whole-exome sequencing approach. #medsky

#OpenAccess: www.sciencedirect.com/science/arti...

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies

This new study indicates that #CSMD1 is associated with #epilepsy and is a novel causative gene of #DevelopmentalAndEpilepticEncephalopathy (DEE) and generalized epilepsies. #medsky

#OpenAccess: www.sciencedirect.co...