KCNT2

The patient A and her parents were sequenced by whole exome sequencing (WES) and analyzed by Clinical Sequencing Analyzer (CSA of WuXiNextCODE). After applying filtering methods and Sanger sequencing for excluding the false positive of WES, we identified a de novo nonsense variant p.Lys564Ter (NM_198503.2:c.1690A>T) in KCNT2 as a candidate variant. During our research period, Gururaj et al and Ambrosino et al identified two de novo KCNT2 missense variants in epileptic encephalopathy patients and their results further confirmed the pathogenicity of our KCNT2 variant in this MMPSI patient.