Objective To analyze the clinical manifestations of Dravet syndrome and the characteristics of SCN1A gene mutation,so as to improve the early diagnosis and distinguishing of Dravet syndrome and avoid ineffective treatment.Methods The clinical data of a patient with Dravet syndrome caused by new nonsense mutation of SCN1A gene locus in the Children's Hospital Affiliated of Zhengzhou University were collected and analyzed.Trio whole exome sequencing was per-formed to identify pathogenic gene variants in the proband and the parents.Results The patient was a 7 months-and 25 days-old boy with clinical manifestations including initial symptom of fever,and later persistent convulsion with no fever,global developmental retardation,status epilepticus,and focal epilepsy,etc.Cranial magnetic resonance imaging showed no abnormality,while long range video electroencephalogram showed more than ten myoclonic seizures of extensive spikes and slow waves in EEG of this patient.Trio whole exome sequencing revealed heterozygous nonsense mutation c.4486C＞T(p.Q1496*)in exon 26 of SCN1A gene,while the parental genotypes were wild type.According to the American College of Medical Genetics standards and guidelines,c.4486C＞T was predicted to be pathogenic(PVS1+PS2+PM2+PP3).Conclusion The novel nonsense mutation c.4486C＞T in SCN1A gene probably is the underlying etiology in this patient,and genetic detection is helpful for early diagnosis and rational treatment of Dravet syndrome.
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