ObjectiveTo explore the molecular characteristics of partial epilepsy with febrile seizures plus(PEFS+). MethodsWe systematically reviewed all SCN1A mutation-related publications that published between Jan.2000 and Dec.2014 on Pubmed and established a database of SCN1A mutations (http://www.gzneurosci.com/SCN1Adatabase/). The characteristics of mutations that cause PEFS+ were analyzed and compared with that of severe myoclonic epilepsy in infancy (SMEI). ResultsThe database included 1, 257 SCN1A mutations, which identified from 1, 727 unrelated cases. In which there were 30 mutations, from 32 unrelated cases, were associated with PEFS+. 76.7% (23/30) mutations were missense, of which 47.8% (11/23) were located on pore region. Significant difference in the percentage of truncation mutation was observed between PEFS+ and SMEI (P < 0.05). There was no significant difference in the percentage of missense mutation that located on the pore region between PEFS+ and SMEI; but the differ significantly in D-value of the missense mutations, which quantified the alteration of amino acid(P=0.042, rank sum test). ConclusionsPEFS+, which distinguishes from GEFS+ and SMEI in clinical and molecular characteristics, is a special phenotype of epilepsy that is associated with SCN1A mutations.
ObjectiveTo investigate the etiology, clinical features, treatment, and prognosis of Partial status epilepticus (PSE). MethodsSeventeen PSE patients were hospitalized in the Department of Neurology at the First Hospital of Jilin University from April 2013 to June 2015. Clinical data were retrospectively analyzed. ResultsA total of 17 patients, 8 male and 9 female, 18~91years old, at mean age (48.90±21.17) years were included. About 12 cases (70.59%) had acute symptomatic status epilepticus, the etiologies including central nervous system inflammation (5 cases), cortical infarction (3 cases), metabolic disorder (1 case), hypoxic-ischemic encephalopathy (1 case), space-occupying lesions(1 case) and degeneration (1 case); four cases (23.53%) were diagnosed with epilepsy, one case (5.88%) had no definite pathogenesis. The seizure types included complex partial status epilepticus (8 cases, 47.06%), complex part of the secondary comprehensive status epilepticus (3 cases, 17.65%), supplementary motor area (SMA) status epilepticus (4 cases, 23.53%), epilepsia partialis continua (EPC) (1case, 5.88%)and complex partial status epilepticus & aura continua (1case, 5.88%). Nine cases (52.94%) were effective after one hour treament, eight cases (47.06%) were negative. 17 cases are followed-up and 4 cases lost, the average follow-up time is (10.89±8.64) months. 8 cases are completely seizure free, and 3 cases have experience less seizures or the symptom is relived; the other 2 cases die from Creutzfeldt-Jacob desease(case No.10) and Respiratory failure(case No.12). ConclusionsThe inpatients of partial status epilepticus are mostly "situation related". Patients with clinical suspect should be administrated with long term video-Electroencephalogram(EEG) monitoring timely. Early diagnosis, treatment and the aggressive treatment can help to improve the prognosis. Patients of encephalitis usually progress into refractory status epilepticus, the anesthetic drugs should be used as soon as possible.
ObjectiveTo evaluate the effectiveness of levetiracetam (LEV) added on to usual care, in treating children refractory partial seizure epilepsy.MethodsWe searched the Cochrane library, EMBASE and PubMed between January 1998-January 2017, We systematically searched CNKI database and Wanfang data, Chinese biology medline and the manual retrieval related magazines.RevMan 5.3 statistical software for Meta analysis.ResultsAccording to the enrollment criteria, fourtrials were included involving 498 participants according to the intent-to-treat, 268 for LEV, and 230 for placebo groups.We assessed the following outcomes: 50% or greater seizure reduction, seizure freedom, adverse effects, proportion of dropouts and quality of life. There was no evidence of statistical heterogeneity between trials.We assessed outcomes by using a meta-analysis to calculate odds ratio (OR) with 95% confidence intervals (95% CI). For the 50% or greater reduction in focal seizure frequency outcome, the OR was significantly in favour of LEV [OR=2.94, 95% CI(1.99, 4.34)].Participants were significantly more likely in LEV groups than placebo groups to get seizure free[OR=5.31, 95% CI(2.49, 11.32)]. There was no significance between LEV groups and placebo groupsin the rate of Treatment withdrawal[OR=0.76, 95% CI(1.32, 1.82)]. Somnolence[OR=2.57, 95% CI(1.36, 4.86)]and changes in behaviour [OR=2.54, 95% CI(1.56, 4.14)] were significantly associated with LEV. Other adverse effects were not significantly associated with LEV in children.ConclusionThe existing evidence suggests that LEV add in treatment of children refractory epilepsy have definite curative effect, LEV long-term treatment effect is stable, good security, retention rate is higher, can be used in clinical further promotion.
Objective To explore the efficacy of low to moderate doses of levetiracetam in adult patients with newly diagnosed partial epilepsy and possible predictors for poor treatment response. Methods We retrospectively analyzed the clinical data of patients treated in West China Hospital from March 2011 to December 2015 whose clinical data were input into the Epilepsy database. Patients with newly diagnosed partial epilepsy and whose initial anti-epileptic drug was levetiracetam were screened out for this study. Their clinical data, especially responses to the treatment of levetiracetam were reviewed. Results Ninety-six patients were included in this study. Seventy-one of them achieved seizure-free for a complete year after initial treatment of levetiracetam. Forty-eight patients (50.0%) achieved seizure-free with levetiracetam monotherapy; 23 patients (24.0%) achieved seizure-free for one year with levetiracetam combination therapy. Sixty-nine (97.2%) of the 71 patients achieved seizure-free with low to moderate doses of levetiracetam (500 to 1 500 mg/day), with or without combination of other antiepileptic drugs. High baseline seizure frequency before initial therapy was an independent predictor of poor levetiracetam response in this multivariate logistic regression mode (P=0.019). Conclusions Low to moderate levetiracetam is both effective and well tolerated in newly diagnosed partial epilepsy patients. High baseline seizure frequency before initial therapy is an independent predictor of poor levetiracetam response.
ObjectiveTo summarize the clinical phenotype, electrophysiological characteristics, imaging characteristics, surgical treatment and prognosis of Rasmussen encephalitis (RE), so as to deepen the understanding of the disease. MethodsThe clinical data of patients with RE who underwent surgical therapy from October 2014 to October 2019 at Children's Epilepsy Center in Peking University First Hospital were retrospectively reviewed. Demographic characteristics, seizure forms, electroencephalogram (EEG), cranial nuclear magnetic resonance (MRI), operative methods as well as surgical outcomes evaluated by Engel classification during follow-up of the subjects were collected and analyzed. ResultsTotally 21 pediatric patients were enrolled, including 8 males and 13 females. The age at onset was (5.0±2.0) years old, the age at the time of surgery was (6.9±2.7) years old, and the disease duration at the time of surgery was (1.7±1.3) years. Twenty (20/21, 95.2%) patients had focal motor seizures, and 10 (10/21, 47.6%) patients had 2 or 3 forms of focal motor seizures. Fifteen patients (15/21, 71.4%) had epilepsia partialis continua (EPC), which occurred (0.7±0.6) years after the onset. All patients had hemiplegia, which appeared at (0.9±0.6) years after the onset. All patients showed a slow rhythm at their affected hemispheres during the EEG monitoring and 4 of them also showed slow rhythm at the contralateral hemispheres as the disease progressed. All patients had epileptiform discharges at the involved hemisphere, and 6 patients also had independent epileptiform discharges on the contralateral side. All 21 patients underwent hemispheric disconnection. The duration of follow-up was 2 to 7 years, and all patients achieved Engel class I after the surgery. The neurological dysfunction recovered to varying degrees during the postoperative period. ConclusionRE mostly occurs around the school age. Focal motor seizures are the main manifestations and the most common onset symptoms. With the progress of the disease, the condition of patients worsened gradually. The EEG of patients was mainly characterized by broad slow wave and spike wave in the affected hemisphere. Some patients can also have bilateral involvement, which was obviously asymmetrical. Through surgical treatment, the patients all achieved good results in terms of seizures and development.