Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical, Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
Unit of Pharmacology, Department of Neuroscience, Reproductive and Odontostomatological Sciences, School of Medicine, University of Naples Federico II, Naples, Italy.
Epileptic Disord. 2020 Dec 1;22(6):807-810. doi: 10.1684/epd.2020.1221.
Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients is reported to be low in the literature, however, whether this is underestimated is unclear as not all current epilepsy gene panels include KCNQ3.
良性家族性婴儿癫痫 (BFIE) 是早发性家族性婴儿癫痫中遗传异质性最强的表型。它具有不完全外显的常染色体显性遗传模式。尽管 PRRT2 是在 BFIE 家族中检测到的突变最多的基因，但也已经描述了 KCNQ2、SCN2A 和 GABRA6 基因的其他突变。迄今为止，仅在 4 名 BFIE 患者中检测到 KCNQ3 突变。在这里，我们描述了一个患有 BFIE 的个体的临床模式和病程，该个体与一个新的杂合错义 KCNQ3 c.1850G>C 变异相关，该变异由其未受影响的父亲遗传。文献报道 KCNQ3 突变在 BFIE 患者中的发生率较低，但由于并非所有当前的癫痫基因检测都包含 KCNQ3，因此是否低估了这种情况尚不清楚。
