Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.
Department of Neurology, University of São Paulo School of Medicine, Brazil.
Brain Dev. 2020 Oct;42(9):691-695. doi: 10.1016/j.braindev.2020.05.003. Epub 2020 Aug 7.
KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy.
We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene.
Whole exome sequencing identified the missense variant c.725C > A p.(Thr242Asn), which was confirmed by Sanger sequencing. Our patient has a refractory stereotyped and monomorphic type of hyperkinetic focal motor seizure, similar to what is seen in frontal lobe epilepsy, occurring only during sleep. This type of seizure is not usually seen in epileptic encephalopathies.
KCNT2 最近被认为与神经发育障碍和癫痫有关。
我们报告了另一个 16 岁男性患者的病例，该患者存在新发现的 KCNT2 可能致病的变异，并且回顾了之前报告的该基因中的五个新发现的变异病例。
全外显子组测序鉴定出错义变异 c.725C>T p.(Thr242Asn)，该变异通过 Sanger 测序得到确认。我们的患者存在难治性刻板样和单一形态的局灶性运动性高振幅发作，类似于额叶癫痫所见，仅在睡眠中发生。这种类型的发作通常不会出现在癫痫性脑病中。
