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A case of dravet syndrome with focal cortical myoclonus

Acta Epileptologica 2022年第3期5卷 208-212页

作者： Xiaoqing Luo Xiaolu Wang Jun Jiang Department of Electrophysiology Wuhan 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

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.

关键词： dravet syndrome Conventional electroencephalogram Focal cortical myoclonus

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A novel mutation in the sodium channel α1 subunit gene in a child with dravet syndrome in Turkey

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Neural Regeneration Research 2013年第10期8卷 955-958页

作者： Mutluay Arslan Ulu Yis Hande aglayan Ridvan Akin Department of Pediatric Neurology Gülhane Military Medical School Department of Pediatric Neurology Dokuz Eylül University School of Medicine Department of Molecular Biology and Genetics Bogazii University

dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.

关键词： neural regeneration clinical practice dravet syndrome sodium channel (]1 subunit gene mutation child Turkish epilepsy refractory seizures neuroregeneration

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Can dravet syndrome Benefit From Neuromodulation?

Can Dravet Syndrome Benefit From Neuromodulation?

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第十六届中国医师协会神经外科医师年会

作者： Jiangwei Ding Lei Wang Sun Tao Ningxia Key Laboratory of Cerebrocranial Disease Ningxia Medical University Department of Neurosurgery General Hospital of Ningxia Medical University Department of Neurosurgery The First Affiliated HospitalZhejiang University School of Medicine

Aims:dravet syndrome(DS) is a refractory epileptic encephalopathy with a variety of comorbidities,including cognitive impairment,autism-like behavior,speech dysfunction,and ataxia,which seriously affect the quality of life of patients and impose a great burden on society and the families of ***,there is no effective therapeutic regimen for treating *** neuromodulation,including vagus nerve stimulation(VNS),deep brain stimulation(DBS),and transcranial magnetic stimulation(TMS),have become common adjuvant therapies for neuropsychiatric diseases,the effectiveness of neuromodulation techniques in the treatment of DS is ***:A comprehensive literature search was performed on the PubMed database using the terms "VNS and dravet syndrome" OR "DBS and dravet syndrome" OR "TMS and dravet syndrome." The systematic review was supplemented with relevant articles from the *** to the International League Against Epilepsy(ILAE) definition,patients with ≥ 50% reduction in seizure rates are regarded as responders,while those with a reduction of<50% are considered ***:A total of 115 cases from 17 articles were included in this study:15 articles(107 patients) assessed the use of VNS,one article(two patients) assessed the use of DBS,and one article(six patients) assessed the use of TMS for the treatment of *** VNS implantation,the seizure rate was reduced by ≥ 50% in 60 cases(56%) and eight cases(7.5%) became *** two DS patients received DBS treatment,but the results were *** significant improvement in seizure rates was observed in the two patients within a short period after implantation,but the seizure rate significantly improved several years post-DBS implantation in both patients after the addition of anti-epileptic *** patients with DS were treated with TMS,but this paper only studied intracortical inhibition after TMS,and it did not analyze the safety and effectiveness of T

关键词： dravet syndrome drug-resistant epilepsy neuromodulation vagus nerve stimulation deep brain stimulation transcranial magnetic stimulation

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