Background To summarize the genetic characteristics of GATOR1 complex gene mutations and the surgical prognosis of patients with refractory epilepsy. Methods A retrospective analysis was conducted on 16 patients with GATOR1 complex gene mutations who presented with mainly refractory epilepsy and underwent surgical treatment at the Epilepsy Center of Tsinghua University Yuquan Hospital from May 2019 to August 2024. The follow-up period ranged from 0.5 to 4.0 years. The genetic characteristics, clinical data, treatment, and prognosis of the patients were analyzed. Results Among the 16 patients, 9 were male and 7 were female, with an onset age ranging from 0.6 to 9.4 years, and seizure frequency ranging from once a day to dozens of times a day. Twelve patients (75.0%) had no seizures after surgery, and three of them had completely stopped taking medication. EEG were focal or multifocal, and all clinical seizures were monitored. Two patients had negative MRI. Among the 16 patients, there were 8 with DEPDC5 gene mutations, 5 with NPRL3 gene mutations, and 3 with NPRL2 gene mutations. Conclusions Patients with refractory epilepsy related to GATOR1 complex gene mutations are good surgical candidates, with a high rate of no seizures after surgery. For confirmed patients, surgical treatment should be considered.
ObjectiveTo evaluate the clinical efficacy and safety of magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) for mesial temporal lobe epilepsy (MTLE), and to compare its outcomes with anterior temporal lobectomy (ATL). MethodsA retrospective cohort of 120 MTLE patients treated at Beijing Tiantan Hospital between August 2022 and August 2024 was analyzed, including 31 patients who underwent MRgLITT and 89 patients who underwent ATL. All patients received comprehensive presurgical evaluations, and stereoelectroencephalography (SEEG) was performed in selected cases. Clinical outcomes at 1 year were compared between the two groups, including seizure control (Engel classification, seizure reduction rate), cognitive and memory changes, quality of life, and postoperative complications. ResultsBaseline characteristics were comparable between groups. At 1-year follow-up, Engel class I outcomes were achieved in 71.0% of patients in the MRgLITT group and 67.4% in the ATL group. Seizure reduction rates were (89.6 ± 26.2)% for MRgLITT and (87.0 ± 28.7)% for ATL, with no significant difference (P=0.92). Postoperative changes in memory, cognition, and quality of life were not significantly different between groups (all P>0.05). The incidence of complications was low and similar between MRgLITT and ATL, including hemorrhage (3.2% vs. 2.2%), infection (16.1% vs. 19.1%), and neurological deficits (3.2% vs. 2.2%). ConclusionMRgLITT provides seizure control and safety outcomes comparable to ATL when applied to carefully selected MTLE patients, with the added advantages of minimal invasiveness and faster recovery. For patients with well-localized epileptogenic foci and hippocampal sclerosis, MRgLITT represents an important alternative to open resection.
ObjectiveTo analyze the effect of magnetic resonance-guided laser interstitial thermal therapy (Magnetic resonance-guided laser interstitial thermal therapy , MRgLITT) for drug resistant epilepsy (DRE). MethodsThe present study analyzed the clinical information of DRE patients treated by MRgLITT in Beijing Tiantan Hospital from August 2020 to February 2021, including the type of disease, postoperative complications, and prognosis (Engel classification) in the one year after surgery. ResultsA total of 55 patients were enrolled. There were 27 males and 28 females, with an average of (21.7±14.1) years, all of whom successfully completed the operation and were followed up for the 1 year after surgery. The diagnosis included intracranial tumors, hypothalamic hamartoma (HH), focal cortical dysplasia (FCD), cavernous malformations (CM), mesial temporal lobe epilepsy (mTLE), and idiopathic generalized epilepsy (underwent corpus callosotomy). The patients with seizure freedom accounted for 59.6% (31/52), and the average remission rate of palliative surgery was 68.6%. The short-term postoperative complications included bleeding in neurological deficit in 6 cases (10.9%), 4 cases (7.3%), and noninfectious fever in 2 cases (3.6%). No serious, long-term complications occurred. The average postoperative hospital stay was (4.7±1.6) days. ConclusionsMRgLITT is gradually mature and has a wide range of indications. This technology provides a safe and effective therapy for DRE patients.
ObjectiveTo investigate the status and prognosis effect of surgical operation for Temporal lobe epilepsy.MethodsRetrospective analyses were performed on 24 patients with intractable temporal lobe epilepsy who were treated by surgery in Zibo Changguo Hospital and had complete clinical and follow-up data, during the period from April 2011 to June 2014. Among them, 14 were male and 10 were female, 16 to 44 years old, the average age was (24.40±6.26) years old, and the average course of disease was (12.50±8.42) years old. The clinical characteristics and prognosis of the patients were analyzed.ResultsAll 24 patients had hippocampal sclerosis and underwent "anterior temporal lobe and medial temporal structural resection". Patients were followed up for 5~7 years, the postoperative epileptic seizure of the patient reached grade Engel Ⅰ in 20 cases (83.3%), grade Engel Ⅱ in 2 cases (8.3%) and grade Engel Ⅳ in 2 cases (8.3%).ConclusionHippocampal sclerosis and cortical dysplasia were common in 24 patients, and the operation controlling intractable epilepsy was better. In order to improve the prognosis of patients, surgical treatment should be carried out as soon as possible.
Objective The purpose of this study was to explore the expressions of EPO-R, JAK2 and STAT-5 in the human brain with refractory epilepsy and the role in neural apotosis. Methods Collecting the brain tissue of 24 patients with intractable epilepsy (as experimental group) who were hospitalized and underwent surgery in the Epilepsy Center of the First Hospital Jilin University between March 2010 to July 2011 and 6 cases of accidental or unnatural death immediately following autopsy (as control group) as required by law during the same term. Immunohistochemical was performed to observe the expression of EPO-R, JAK2 and STAT-5 in brain tissue and statistical analysis was performed. Results ① EPO-R, JAK2 and STAT-5 were expressed in both experimental and control groups. In experimental group, the positive-cell number were 41.05±2.40, 50.21±2.50 and 60.18±2.84 under light microscope (400×). While in control group, the positive-cell number were 23.00±0.49, 27.00±0.88 and 25.93±0.33. There were significant differences between the 2 groups (P<0.001). ② There were the pathologic and ultrastructural changes in the human brain with refractory epilepsy. Under the optical microscope, we can observe that the distribution of neurons was uneven and immature neurons were visible. We can see that the nuclei were vacuolar, less cytoplasm, dark staining, hyalomitome acidophilic body, and the neurons became triangular due to degeneration. The proliferation and hyperemia appeared in small vascular and glial cells. Under the transmission electron microscope we observed degeneration and necrosis of the nerve cells, nuclear karyopyknosis, nucleolis dyssymmetry and karyolemma breakage and even dissolution. The mitochondria and astrocytes were swelling. We also saw that part of the mitochondrial cristae was abnormal. Conclusion ① We found neuronal apotosis in the human brain with refractory epilepsy. ② The expression of EPO-R, JAK2 and STAT-5 in intractable epilepsy was significantly increased in neurons and glial cells compared with the control group. The high expression of EPO-R, JAK2 and STAT-5 is unrelated with course and frequency of epileptic seizures. ③ The pathway of EPO-R/JAK2/STAT-5 may be involved in the pathophysiological processes of neural protective effect of endogenous EPO against brain injury induced by epileptic seizures.
ObjectiveTo investigate the efficacy of vagus nerve stimulation (VNS) in patients with refractory magnetic resonance imaging (MRI)-negative epilepsy and to evaluate potential clinical predictors. MethodsA retrospective collection of efficacy data was conducted on 24 patients with intractable MRI-negative epilepsy treated with VNS, who were followed up for more than six months, at Beijing Tiantan Hospital and Beijing Fengtai Hospital from January 2016 to September 2023. Patients were divided into two subgroups based on their response to VNS: responders (≥50% reduction in seizure frequency) and non-responders (<50% reduction in seizure frequency). The relationship between preoperative clinical data and VNS efficacy was further analyzed to identify potential predictors of VNS efficacy. ResultsA total of 24 patients were included, with an average age of (14.26±8.39) years old. Seizure frequency was reduced by more than 50% in 37.5% of patients, and 8.3% of patients achieved seizure-free after VNS treatment. Preoperative seizure frequency and interictal epileptiform discharge type were significantly associated with VNS efficacy (P<0.05). Multivariate regression analysis showed that a monthly seizure frequency of less than 100 and focal interictal epileptiform discharges were independent predictors of VNS efficacy (P<0.05). ConclusionVNS is an effective treatment for patients with refractory MRI-negative epilepsy. Lower monthly seizure frequency and focal interictal epileptiform discharges are potential predictors of VNS efficacy. These findings provide important references for clinicians in selecting and evaluating patients for VNS treatment.