Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Monteiro FP, et al. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy. Brain Dev 2020 Aug 6. pii: S0387-7604(20)30144.
PMID: 32773162