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Objective To discuss clinical,electroencephalogram(EEG) and PRRT2 gene mutation by reporting a febrile seizure (FS) with paroxysmal kinesigenic dyskinesia (PKD) family.Methods Detailed clinical data of the family were collected.The proband (Ⅳ1) and another 4 patients (Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3)were studied through clinical examinations.Clinical symptoms of Ⅳ2 were not typical,who was diagnosed as a suspected case.Mutation analysis of PRRT2 gene was screened by polymerase chain reaction (PCR) and DNA direct sequencing in 5 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3) and 4 unaffected family members (Ⅱ2,Ⅲ2,Ⅲ5,Ⅳ4).Results PKD patients had brief involuntary movements in the limbs or trunk induced by sudden voluntary movement when patients were in the stationary state since the teenagers.Two cases (Ⅲ,Ⅲ4) were accompanied by FS.Three cases(Ⅳ1,Ⅲ1 and Ⅲ4)had abnormal EEG records.The PRRT2 gene mutation (c.649dupC mutation) was identified in a healthy member (Ⅳ4) and 4 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ3).Conclusions FS with PKD family has a PRRT2 gene mutation.The diagnosis is mainly based on family history,typical clinical manifestations and genetic test.This kind of disease may have pre-symptomatic patients.
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Objective To explore the effect of Levetiracetam on Electrocorticogram of epileptic rats induced by lithium-Pilocarpine.Methods Sixteen SD rats were randomly divided into two groups(8 rats in each group),normal saline group and Levetiracetam group.After epileptic model was induced by lithium-Pilocarpine,lateral ventricle was administered with Levetiraeetam and saline by the same volume.The change of frequency of epileptic discharge and different brainwave proportion distribution was observed.Results Compared with normal saline group,the epileptic discharge were significantly decreased(P＜0.01)and the proportion of δ wave was enhanced,meanwhile β wave was decreased in Levetiraeetam group(P＜0.05).Conclusion Levetiracetam has the role of anti-epilepsy in acute model of epileptic rats induced by lithium-Pilocarpine.
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OBJECTIVE:To explore the changes of serum phenytoin levels and its pharmacokinetics in menstrual epilepsy.METHODS:9cases of menstrual epilepsy patients who were treated with phenytoin were collected,whose blood concentra?tions of phenytoin in menstrual period and ovulation period were respectively determined by HPLC,pharmacokinetics study was performed in three of them.RESULTS:The mean serum phenytoin levels in menstrual period and ovulation period were(9.25?2.71)?g/ml and(13.33?3.22)?g/ml,respectively(P
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OBJECTIVE:To observe the efficacy and safety of topiramate in treatment of epilepsy METHODS:15 patients with refractory epilepsy treated with topiramate as additive drug and 61 newly-diagnosed epileptic patients with topiramate as monotherapeutic agent entered the open-label trial and were followed-up RESULTS:Among 15 patients with refractory epilepsy, the frequency of seizure decreased by 50% or greater in 10 cases with an effective rate of 66 7%, and 2 patients were free from seizure;among 61 newly-diagnosed cases, the frequency of seizure reduced by 50% or more in 45 cases(73 8%), and 16 cases were free from seizure(26 2%) The ARDs were lower in incidence and mild in severity CONCLUSION:Topiramate was safe and effective as additive or monotherapeutic agent for multiple types of seizure