Supplementary Material for: Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <b><i>NEXMIF</i></b>Mutation: Case Report

The <i>NEXMIF</i> (<i>KIAA2022</i>) gene is located in the X chromosome, and hemizygous mutations in <i>NEXMIF</i> cause X-linked intellectual disability in male patients. Female patients with heterozygous mutations in <i>NEXMIF</i> 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 <i>NEXMIF</i> 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 <i>NEXMIF</i>. 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 <i>NEXMIF</i> mutations.

NEXMIF（KIAA2022）基因定位于X染色体，其半合子突变可导致男性患者出现X连锁智力障碍。携带NEXMIF杂合突变的女性患者同样会表现出类似但程度更轻的智力障碍。相较于男性患者，多数女性患者会伴发难治性癫痫，且目前针对此类癫痫的治疗策略仍不明确。截至目前，全球已报道24例携带NEXMIF突变的女性患者，其中20例合并癫痫，仅2例患者的癫痫得到有效控制。本文报告1例携带NEXMIF杂合新发突变NM_001008537.2:c.1123del（p.Glu375Argfs*21）的女性患者，该患者表现为轻度智力障碍、面部畸形、肥胖、全面性强直-阵挛发作及非惊厥性癫痫持续状态。丙戊酸钠治疗虽有效，但引发了继发性闭经；而改用氯硝西泮后，成功控制癫痫且未出现不良反应，提示氯硝西泮或可作为NEXMIF突变相关癫痫的理想治疗选择。

搜集汇总

背景与挑战

背景概述

该数据集是病例报告《氯硝西泮作为NEXMIF突变女性患者癫痫有效治疗》的补充材料，包含一个Excel文件（16.2 kB），发布于2020年9月1日。它详细描述了NEXMIF基因突变导致的X连锁智力障碍，特别关注女性患者中难治性癫痫的治疗挑战，并通过具体病例展示了氯硝西泮作为有效且无副作用的治疗选择，为相关临床实践提供数据支持。