A case of Dravet syndrome with focal cortical myoclonus
作者机构：Department of ElectrophysiologyWuhan Children’s Hospital(Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science and TechnologyNo 100 of Hong Kong Road Jiang an District430016 WuhanChina
出 版 物：《Acta Epileptologica》 (癫痫学报（英文）)
年 卷 期：2022年第5卷第3期
页 面：208-212页
主 题：Dravet syndrome Conventional electroencephalogram Focal cortical myoclonus
摘 要：Background:Dravet syndrome(DS)is a severe epileptic encephalopathy in children dominated by polymorphic *** cortical myoclonus indicated on conventional electroencephalogram(EEG)was rarely observed in *** presentation:The child,boy,thirteen months old,suffered from clonic seizures during bathing at two months *** he suffered from recurrent afebrile or febrile generalized tonic–clonic seizures often developing into status epilepticus.A genetic analysis of the SCN1A gene revealed a de novo heterozygous frame shift mutation in exon 21(c.3836_c.3837del AT).His myoclonic jerks of unilateral arm occurred spontaneously in response to movement.A spike wave from right central-parietal cortex immediately preceded a left myoclonic muscle activity,while a spike wave from left immediately preceded a right myoclonic muscle *** onset of the detected spike preceded the onset of myoclonic muscle activity by 42 ms using jerk-locked back-averaging of electroencephalogram *** focal cortical myoclonus was not noted when one year ***:Focal cortical myoclonus could be a form of seizures during the first year of life in DS,which may broaden the types of seizures of DS and may provide some diagnostic clues for DS.
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