钾电压门控通道亚家族Q成员2（KCNQ2）基因最初与“良性家族性新生儿癫痫”（BFNE）相关。下一代测序技术产生的大量证据导致了新表型的定义，如新生儿癫痫性脑病（NEE），扩大KCNQ2相关癫痫的范围。吡哆醇（PN）依赖性癫痫（PDE）是一组异质性的常染色体隐性遗传疾病，与对维生素B6（VitB6）治疗有反应的新生儿发作性癫痫发作有关。据报道，由于KCNQ2致病变体引起的新生儿癫痫发作很少病例成功响应VitB6。我们报告了两例KCNQ2相关的新生儿癫痫，涉及一名5岁男性，具有父系遗传杂合突变（c.1639C>T;p.Arg547Trp），和10岁女性，具有从头杂合突变（c.740C>T；p.Ser247Leu）。两个孩子都受益于VitB6治疗。尽管解释VitB6在此类患者中的疗效的机制仍不清楚，新生儿重症监护病房(NICU)很容易考虑到新生儿发作性癫痫的这种治疗选择.应进行进一步的研究以更好地定义临床指南和治疗方案。
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with \"Benign familial neonatal epilepsy\" (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy (NEE), expanding the spectrum of KCNQ2-related epilepsies. Pyridoxine (PN) dependent epilepsies (PDE) are a heterogeneous group of autosomal recessive disorders associated with neonatal-onset seizures responsive to treatment with vitamin B6 (VitB6). Few cases of neonatal seizures due to KCNQ2 pathogenic variants have been reported as successfully responding to VitB6. We reported two cases of KCNQ2-related neonatal epilepsies involving a 5-year-old male with a paternally inherited heterozygous mutation (c.1639C>T; p.Arg547Trp), and a 10-year-old female with a de novo heterozygous mutation (c.740C>T; p.Ser247Leu). Both children benefited from VitB6 treatment. Although the mechanisms explaining the efficacy of VitB6 in such patients remain unclear, this treatment option in neonatal-onset seizures is easily taken into account in Neonatal Intensive Care Units (NICUs). Further studies should be conducted to better define clinical guidelines and treatment protocols.
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