Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu…·John A. Capra
The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.
10 citations