Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BR-C,ttk and bab/pox virus and zinc finger domain-containing KCTD7 protein. We report four individuals from three Indian families presenting with an initial period of normal development, progressive myoclonic seizures followed by neuroregression and an abnormal electroencephalogram. We identified two novel missense variants, c.458G>C p.(Arg153Pro) and c.205C>G p.(Leu69Val) and one known disease-causing variant, c.280C>T p.(Arg94Trp) in KCTD7 by exome sequencing. We review the literature of 67 individuals with variants in KCTD7. Our study expands the molecular spectrum of KCTD7-related progressive myoclonic epilepsy.

癫痫，进行性肌阵挛 3 型，伴或不伴细胞内包涵体 (MIM# 611726) 是一种罕见的常染色体隐性遗传疾病，与KCTD7致病性变异相关，KCTD7编码 BR-C、ttk 和 bab/pox 病毒以及含锌指结构域的 KCTD7 蛋白。我们报告了来自三个印度家庭的四名患者，他们表现出正常发育初期、进行性肌阵挛癫痫发作，随后出现神经退行和脑电图异常。我们通过外显子组在KCTD7中鉴定了两种新的错义变异 c.458G>C p.(Arg153Pro) 和 c.205C>G p.(Leu69Val) 以及一种已知的致病变异 c.280C>T p.(Arg94Trp)测序。我们回顾了 67 名具有KCTD7变异的个体的文献。我们的研究扩大了KCTD7相关进行性肌阵挛癫痫的分子谱。