We searched The Cochrane Library（Issue 3, 2005）, MEDLINE（1996-2005） ,CMCC（1996-2005）, VIP（1996-2005） ,CNKI（1996-2005） to summarize the available evidence of topiramate for an intractable epilepsy. After scanning all these articles, we identified 11 articles including meta-analysis, randomised controlled trials and systematic reviews to evaluate. Topiramate offered an alternative in the treament for intractable epilepsy, especially for partial epilepsy, and its efficacy was proven. Patients had good tolerance. And no intercross effects with the traditional anti-epileptic drugs were found. So topiramate had broad clinical value. The primary dosage of topiramate was 200mg/d. The sustaining dosage was 400-600mg/d. And we didn＇t recommend the dosage of more than 600mg/d.
ObjectiveTo observe the children with idiopathic epilepsy who received AED therapy and seizure-free, withdrawal at least 1 year, and analyze the risk factors of seizure recurrence. In order to give better instructions for AED withdrawal of children with idiopathic epilepsy in pediatric department. MethodsChildren with idiopathic epilepsy who were seizure-free and had stopped AED treatment at least 1 year before the deadline of observation were collected from pediatric outpatient and inpatient department of the First Affiliated Hospital of Guangxi Medical University from January 2011 to January 2014. The following variables, derived from the case records were analyzed: sex, age at seizure onset, type of seizure, time period between the onset of the first seizure and start of treatment, number of seizures in the time period between the start of AED therapy and the last seizure, number of AEDs before remission, time period between the start of AED therapy and the last seizure, time period between the last seizure and withdrawal of AED treatment (seizure-free period, timing of AED withdrawal), time period between the start of AED withdrawal and total discontinuation(speed of withdrawal), EEG registered at the time of diagnosis, before AED withdrawal, during and after AED withdrawal, and the condition of recurrence, data analysed by multi-variate step-wise Cox regression model analysis. ResultsA total of 16(12.8%) children relapsed in a total number of 125 children with idiopathic epilepsy we collected; date evaluated by multi-variable analysis showed that the children suffering from seizure type of focal seizure, starting withdrawal after a seizure-free period of less than 3 years and with abnormal post-withdrawal EEG recording was associated with a higher risk of seizure recurrence. ConclusionsChildren with idiopathic epilepsy have a low risk of recurrence after AED withdrawal. Those who suffer from seizure type of focal seizure, start withdrawal after a seizure-free period of less than 3 years and with abnormal post-withdrawal EEG recording are associated with a higher risk of seizure recurrence.
ObjectivesTo analyze prospective incidence and risk factors of urolithiasis after Topiramate (TPM) therapy in epileptic patients. MethodsWe prospectively analyzed the incidence of urolithiasis in 120 patients with epilepsy who diagnosed in the Department of Neurology of the First Hospital Affiliated to Dalian Medical University from March 2004 to March 2013. Then calculated the incidence of urolithiasis, and analyzed the risk factors. ResultsIn the 120 cases we collected, male accounted for 74, female accounted for 46. After treated with TPM, the incidence of urolithiasis was 18.3%. All of urolithiasis were kidney stones. The stones caused by TPM were mostly single and small, most of which would disappear spontaneously after discontinuation of the medication. The incidence of asymptomatic urolithiasis was 3.4 times to that of symptomatic urolithiasis. The development of urolithiasis had no correlation with the dose of TPM and duration. Urolithiasis frequently occurred in epilepsy patients in the age over 20 or symptomatic epilepsy or duration of combined medication≥3 months. ConclusionsThe incidence of urolithiasis in epilepsy patients was 18.3% after initiating TPM therapy. The stones would disappear spontaneously after discontinuation of the medication. The development of urolithiasis had no correlation with the dose of topiramate and duration.
ObjectiveMalformations of cortical development (MCDs) are increasingly identified as important etiology for refractory epilepsy. Little is known about the spectrum, distribution and clinical features of MCDs, especially in a resource-limited region. This study investigated the distribution and compared the clinical features and long-term prognosis between simple and multiple forms. MethodsConsecutive 150 epilepsy patients with pathologically or radiologically confirmed MCDs were included from a tertiary epilepsy center in western China. Patients were divided into three subtypes according to the scheme of Barkovich, also Simple and Multiple forms based on whether single type of MCDs or other brain developmental abnormalities co-existed. ResultsThe most common type of MCDs is focal cortical dysplasia, and China is still in the early phase of implementing surgical treatments. We found perinatal insults more common in sub-group III patients. Furthermore, 'Multiple' form was identified in 36/150 patients. Patients with heterotopias were more commonly associated with other abnormalities. ConclusionMCDs are critical causes for epilepsy, also a big challenge for resource-limited countries. Imaging techniques are crucial in diagnosing and classifying cortical deformities. Multiple malformations lead to more severe clinical features and worsen the prognosis, helping physicians to seek the best therapeutic option, also assists in classifying MCDs.
ObjectiveMitochondrial encephalomyopathy is a series of diseases that drag in central nervous system and generalized muscles. The pathogenesis of the disease is lack of ATP for the dysfunction of mitochondria. The misdiagnosis rate of the disease is high and the purpose of this study is to improve the recognition and diagnosis of mitochondrial encephalomyopathy and thus, clinicians could take rational treatment in time and improve patients' prognosis. MethodsThe clinical data of 11 patients with mitochondrial encephalomyopathy were analyzed including the physical data, clinical presentations, laboratory data, neuroimaging findings, muscle biopsy, genetic testing, treatment and prognosis. Reviewing literature and summarizing the clinical characteristics of mitochondrial encephalomyopathy. ResultsAmong the 11 patients with mitochondrial encephalomyopathy, the mean age was 17 years old. 1 case had family history. 7 cases were misdiagnosed in the first clinic visit. The onset of the 11 cases, 9 were paroxysmal and 2 were hidden. In the course, 10 cases had an epileptic seizure. Among the 9 cases who took the determination of serum lactate, 8 was in high level.9 cases had MRI examination and all found abnormality, 10 patients had EEG examination, and 9 cases found abnormality, 6 cases had muscle biopsy and all found the ragged red fiber(RRF). 6 cases had molecular genetic testing, and all found mutations in mitochondrial DNA. Among the 10 cases who had epileptic seizure, 3 cases can be controlled with single kind of antiepileptic drug. The other 7 cases had a recurrence of epilepsy with single kind of antiepileptic drugs, but can be cotrolled after drug adjusting or drug combination. ConclusionMitochondrial encephalomyopathy is often accompanied by seizure, which is usually found in children, and also often accompanied by systemic muscle symptoms. The clinical manifestations of the disease is not typical, but is complex and varied symptoms, so the clinical misdiagnosis rate is high. Mitochondrial encephalomyopathy mainly involves the main intracranial artery distribution area (parietal lobe, temporal lobe, occipital lobe, etc.) in central nervous system, and can involve more than one part. Patients with mitochondrial myopathy brain are usually detected the elevation of serum lactate levels, but if the lactic acid level is normal, it does not rule out the possibility of the disease, the confirmation of the disease is mainly by muscle biopsy or genetic tests. There is no specific treatment for mitochondrial encephalomyopathy till now, and it still give priority to symptomatic treatment. And the prognosis is poorer.
Objective To observe the clinical characteristics and influencing factors of post-stroke epilepsy. Methods Our research wasaretrospective study, the data came from the information of patients diagnosed with post-stroke epilepsy from our hospital on October 2000 to December 2014 withatotal of 160 cases. With the general collection of clinical data, including gender, past history, clinical manifestations, laboratory examinations and treatment informations. Results The shortest time of post-stroke seizures were occur immediately, the longest was 15 years after the stroke. Peak onset is as early as onset of stroke immediately, late-onset seizures after stroke peaks between 6 months to 1.5 years. 59 patients occurred early epileptic seizures, partial seizures were the most common, accounting for 47.46%; 101 patients occurred late epilepsy, generalized tonic-clonic seizures were the most common, accounting for 56.44%. 25% of patients wereasingle-site lesions, the most common site was temporal lobe; 75% of patients were multifocal lesions. Most were located in the temporal lobe, frontal lobe and the basal ganglia. 42 cases of patients performed EEG, 30 patients (71.43%) of the EEG abnormalities, including 22 cases (73.33%) recurrent epileptic seizures; 12 cases (28.57%) patients with an edge or normal EEG, including 3 cases (25%) relapsed. 54.38% patients with drug therapy to single-agent therapy, two patients with refractory epilepsy to be combination therapy. Conclusions This group of post stroke epilepsy patients were more common as late-onset epilepsy, early onset of stroke peaks is the first day, and delayed the onset of the peak after stroke is within 6 months to 18 months. Lesions in the cortex:alarge area and multiple lesions were risk factors for post-stroke epilepsy, cortical damage to the temporal lobe is most prevalent. 71.43% of patients may have abnormal EEG, EEG abnormalities have higher relapse rate in patients with epilepsy.
Objective To research the clinical characteristics and the arysulfatase A(ARSA) gene screening inafamily withametachromatic leukodystrophy and epilepsy child. Methods Clinical data were collected and ARSA gene were tested by PCR and Sanger sequencing in the pedigree． Results Two mutations in exon 2 of ARSA gene was identified in the proband includingaknown heterozygous missense mutation c.293C>T which was also found in his mother andanovel frameshift mutation c.302de1G. None of them was found in the proband’s brother. Conclusion The intractable epilepsy of the proband was related to his metachromatic leukodystrophy. Andanew frameshift mutation c.302delG was found in his ARSA gene, which haven’t reported around the world yet. Combined with the patient’s typical late infantile presentation, we speculated that the frameshift mutation c.302delG may be the cause of MLD.
ObjectiveTo evaluate the effect of the timing of surgery on treating refractory epilepsy caused by cavernomas. Method63 patients with refractory epilepsy caused by intracranial supratentorial cavernomas were retrospectively analyzed on the duration of epilepsy, epileptogenesis sitations, and epileptic seizure types. After resection surgeries of cavernomas, the surgical outcomes were compared between the patients with shorter duration of seizures and the longer ones. ResultThe durations of epilepsy were beteen 3 months and 25 years, median 4.5 years. The temporal epilepsies were 43, frontal 12, parietal 3, occipital 1, cingulate gyrus 1, and multiple lobe 3. The overall ILAE class 1 outcome was 71.4% in 63 patients at 2-year-followup, and ILAE class 1 and 2 outcome was 81.6%. The seizure free rate in the group with epilepsy duration shorter than 5 years was 92.1%, better than the 56.0% in the group with epilepsy duration longer than 5 years. ConclusionOnce the diagnosis of medical refractory epilepsy caused by cavernoma was confirmed, the early surgical operation should be considered seriously.
ObjectiveTo review the diagnosis, clinical characteristics and treatment of Arachnoid cyst rupture associated with epilepsy. MethodsThe clinical data of one patient with arachnoid cyst rupture associated with epilepsy was reported and diagnosis, clinical characteristics, the treatment options were discussed with literature reviewed. ResultsWe arranged the operation:arachnoid cyst resection and the left anterior temporal lobe resection and colostomy, the patient recovered well postoperatively, without special discomfort, epilepsy did not attack again. ConclusionsArachnoid cyst rupture associated with epilepsy is extremely rare, postoperative effect is good through strict preoperative assessment.
ObjectiveTo study the relation between the clinical phenotype and neurological developmental quotient in children with epilepsy and GPR98 gene mutation. MethodsGenomic DNA was extracted from peripheral blood lymphocytes of the probands and other available members in the epilepsy families.Clinical datas and screened for mutations by next-generation sequencing conbined target sequencing technology and PCR and direct DNA sequencing were collected.Then, the relations between the clinical phenotype and developmental quotient in children with epilepsy and GPR98 gene mutation was analyzed. ResultsSeven novel GPR98 gene mutations were found in seven probands in 65 families, including six heterozygote missense mutations (c.6083C <、c.1969A < C、c.17531C < T、c.9069G < C、c.6661G < A and c.18496A < C) and one nonsense mutation (c.14224G < T). One of their parents carried the same GPR98 gene mutation as the proband's. The initial symptom of six cases was afebrile seizures and one showed febrile seizure, in which the main type seizure was generalized seizure.Moreover, was were significant difference between children with epilepsy and GPR98 gene mutations and healthy children in developmental quotient test(P < 0.01). ConclusionsThe main type of seizures in children with epilepsy and GPR98 gene mutations is generalized seizure. Furthermore, GPR98 gene mutations may be associated with psychomotor retardation.