Objective To summarize the clinical and genetic characteristics of 10 patients with PRRT2 gene variants related spectrum of diseases.Methods The clinical manifestations,electroencephalogram(EEG),head magnetic resonance image(MRI),gene variation and treatment of 10 children with PRRT2 gene-related diseases admitted to the pediatric of Xuanwu Hospital,Capital Medical University from July 2020 to August 2022 were retrospectively analyzed.Results Ten patients with heterozygous PRRT2 gene variants were enrolled for this study,3 patients were large fragment deletion,5 patients were frame-shift variants,1 patent was splicing variants,with 5 males and 5 females,the onset age from 4 months to 10 years.Seven patients were diagnosed with SFIE,1 patient was diagnosed with PKD,2 patients were diagnosed with IC/PKD.Additionally,5 patients had a family history of PRRT2 gene variants related diseases.All patients achieved seizure free with the use of a single anti-seizure medicine(ASM).Seven patients were treated with oxcarbazepine,while 3 patients were treated with levetiracetam.Conclusion PKD,SFIE and IC/PKD were evolving spectrum associated with PRRT2 gene variants,c.649dupC was the most common variant.It was recommended that for patients highly suspected of having SFIE,PKD and IC/PKD,further detection of introns and chromosomal microdeletion/microduplication should be considered if no abnormal genes are found through whole exome sequencing,to achieve early diagnosis and treatment.
Proline-rich transmembrane protein 2(PRRT2)/PRRT2 gene variants related spectrum of diseases/Paroxysmal kinesigenic dyskinesias(PKD)/Self-limited familial infantile epilepsy(SFIE)/Paroxysmal kinesigenic dyskinesia with infantile convulsions(IC/PKD)/Clinica
维普
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