Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus

摘要

>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-generation sequencing. The novel mutation (inherited from the mother) is the first reported deletion mutation longer than 20 bp in TBC1D24. The p.Ala500Val mutation inherited from father has been reported in a German patient with infantile myoclonic, for whom results from the EEG and neuroimaging were normal. These two mutations resulted in the severe phenotypes observed in our patient>Conclusions: The identification of the novel TBC1D24 mutation and consequent complicated clinical manifestations suggest that patients with NCSE and ataxia demand more attention. We further recommend that genetic test should be administered to these patients to avoid genetic inheritance of this mutation.