Open AccessClonazepam as an Effective Treatment for Epilepsy in a Female Patient with <b><i>NEXMIF</i></b> Mutation: Case Report
Author(s) -
Masashi Ogasawara,
Eiji Nakagawa,
Eri Takeshita,
Kohei Hamanaka,
Satoko Miyatake,
Naomichi Matsumoto,
Masayuki Sasaki
Publication year - 2020
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000510172
Subject(s) - epilepsy , clonazepam , medicine , endocrinology , pharmacology , psychiatry
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.