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

We report a female patient with a heterozygous de novo mutation, NM_001008537.2:c.1123del (p.Glu375Argfs*21), inNEXMIF. 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 withNEXMIF mutations.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research