Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0028754 (
obesity
)
124,988
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with
NEXMIF
Mutation: Case Report. 3322 18
