The NEXMIF (KIAA2022) gene is located in the X chromosome, and hemizygous mutations in NEXMIF cause X-linked intellectual disability in male patients. Female patients with heterozygous mutations in NEXMIF also show similar, but milder, intellectual disability. Most female patients demonstrate intractable epilepsy compared with male patients, and the treatment strategy for epilepsy is still uncertain. Thus far, 24 female patients with NEXMIF mutations have been reported. Of these 24 patients, 20 also have epilepsy. Until now, epilepsy has been controlled in only 2 of these female patients. We report a female patient with a heterozygous de novo mutation, NM_001008537.2:c.1123del (p.Glu375Argfs*21), in NEXMIF. The patient showed mild intellectual disability, facial dysmorphism, obesity, generalized tonic-clonic seizures, and nonconvulsive status epilepticus. Sodium valproate was effective but caused secondary amenorrhea. We successfully treated her epilepsy with clonazepam without side effects, indicating that clonazepam might be a good choice to treat epilepsy in patients with NEXMIF mutations.
Mol Syndromol

中文翻译：

---

氯硝西泮可有效治疗 NEXMIF 突变女性癫痫患者：病例报告


NEXMIF （ KIAA2022 ）基因位于X染色体上， NEXMIF的半合子突变会导致男性患者的X连锁智力障碍。携带NEXMIF杂合突变的女性患者也表现出类似但较轻微的智力障碍。与男性患者相比，大多数女性患者表现出顽固性癫痫，癫痫的治疗策略仍不确定。迄今为止，已有24名携带NEXMIF突变的女性患者被报道。这24名患者中，有20人还患有癫痫。到目前为止，其中只有 2 名女性患者的癫痫得到了控制。我们在NEXMIF中报告了一名患有杂合新生突变 NM_001008537.2:c.1123del (p.Glu375Argfs*21) 的女性患者。患者表现出轻度智力障碍、面部畸形、肥胖、全身强直阵挛性癫痫发作和非惊厥性癫痫持续状态。丙戊酸钠有效，但引起继发性闭经。我们成功地用氯硝西泮治疗了她的癫痫，且没有副作用，这表明氯硝西泮可能是治疗NEXMIF突变患者癫痫的良好选择。
 摩尔综合症