Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus.

ABSTRACT: Objective: Nonconvulsive status epilepticus (NCSE) is an uncommon clinical manifestation in patients with TBC1D24 mutations. In addition, NCSE has not been reported as a syndrome together with cerebellar ataxia and ophthalmoplegia. Methods: We herein report the clinical and genetic features of a four-year-old patient with NCSE, cerebellar ataxia, and ophthalmoplegia caused by hitherto unidentified TBC1D24 mutations. We performed 24-h video electroencephalogram (EEG), magnetic resonance imaging, and gene sequencing on the patient and her parents to determine the diagnosis. Results: We identified a novel c.1416_1437del (p.Ser473Argfs^*43) mutation, as well as the previously identified c.1499C>T (p.Ala500Val) mutation in TBC1D24, by using targeted next-generatio

SUBMITTER: Li J 

PROVIDER: S-EPMC6079244 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature