Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report
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氯硝西泮可有效治疗 NEXMIF 突变女性癫痫患者：病例报告
DOI：
10.1159/000510172
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发表时间：
2020
期刊：
影响因子：
1.1
通讯作者：
Sasaki M.
中科院分区：
文献类型：
--
作者：
Ogasawara M;Nakagawa E;Takeshita E;Hamanaka K;Miyatake S;Matsumoto N;Sasaki M.
NEXMIF（KIAA2022）基因位于X染色体，NEXMIF的半合子突变导致男性患者的X连锁智力残疾。NEXMIF杂合突变的女性患者也表现出类似但较轻的智力残疾。与男性患者相比，大多数女性患者表现为难治性癫痫，癫痫的治疗策略仍不确定。到目前为止，已报告了24例NEXMIF突变的女性患者。在这24名患者中，有20人患有癫痫。到目前为止，这些女性患者中只有2例癫痫得到控制。我们报告了一个女性患者的杂合子从头突变，NM_001008537。2：c. 1123del（p.Glu375Argfs * 21），在NEXMIF中。患者表现为轻度智力残疾、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，没有副作用，表明氯硝西泮可能是治疗NEXMIF突变患者癫痫的良好选择。
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.
影响因子：
3.5
作者：
Van Maldergem, Lionel;Hou, Qingming;Man, Heng-Ye
通讯作者：
Man, Heng-Ye
影响因子：
3.5
作者：
Viggiano, E.;Picillo, E.;Politano, L.
通讯作者：
Politano, L.
与 NEXMIF 突变相关的鱼雷性黄斑病变
影响因子：
1.1
作者：
T. Alarcon;A. Khan;K. Myers
通讯作者：
K. Myers