Dudipala Sai Chandar, M Prashanthi, Chennadi Amith Kumar
Pediatric Neurology, Star Women & Children Hospital, Karimnagar, IND.
Pediatrics, Prathima Institute of Medical Sciences, Karimnagar, IND.
Cureus. 2021 Feb 19;13(2):e13447. doi: 10.7759/cureus.13447.
The progressive myoclonus epilepsy (PME) is a rare group of clinically and genetically heterogeneous disorders characterized by myoclonus, drug refractory epilepsy, and neurological deterioration. Here, we report a three-year-old female patient with neuroregression after a period of normal development and uncontrollable myoclonic seizures, which fulfill the criteria of PME. Next-generation sequencing revealed a novel homozygous mutation of variant c.173G>C in exon 2 of the KCDT7 (potassium channel tetramerization domain containing protein 7) gene that was compatible with the diagnosis of progressive myoclonic epilepsy 3 (PME3) with or without intracellular inclusions. This is a rare report of KCTD7 mutations causing PME in the Indian population. Our findings supported the important role of KCTD7 in PME and broadened the mutation spectrum.
进行性肌阵挛癫痫（PME）是一组罕见的疾病，在临床和基因方面具有异质性，其特征为肌阵挛、药物难治性癫痫和神经功能恶化。在此，我们报告一名3岁女性患者，在经历一段正常发育后出现神经功能衰退，并伴有无法控制的肌阵挛发作，符合PME的标准。二代测序显示KCDT7（含钾通道四聚化结构域蛋白7）基因外显子2中的c.173G>C变异存在一个新的纯合突变，该突变与伴或不伴有细胞内包涵体的进行性肌阵挛癫痫3型（PME3）诊断相符。这是印度人群中关于KCTD7突变导致PME的罕见报告。我们的研究结果支持了KCTD7在PME中的重要作用，并拓宽了突变谱。
