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.
In the treatment of drug-refractory epilepsy in children, surgical treatment has a good clinical effect. However, for children whose surgical site is difficult to determine and who cannot undergo resectional surgery, neuromodulation techniques are one of the treatments that can be considered. At present, new neuromodulation technologies in children mainly include transcutaneous vagus nerve stimulation (transcutaneous auricular vagus nerve stimulation, ta-VNS), deep brain stimulation (deep brain stimulation, DBS), reactive nerve stimulation (responsive neurostimulation, RNS), transcranial magnetic stimulation (transcranial magnetic stimulation, TMS), transcranial direct current stimulation (transcranial direct current stimulation, TDCS) and transcranial alternating current stimulation (transcranial alternating current stimulation, TACS). This article briefly discussed the clinical efficacy and safety of various currently available neuromodulation technologies, so as to provide a reference for the rational selection and application of neuromodulation technologies, and improve the clinical efficacy and quality of life of children with drug-refractory epilepsy.
ObjectiveTo analyze the clinical efficacy and safety of rapamycin in the treatment of Tuberous sclerosis complex ( TSC ) complicated with refractory epilepsy, and to provide scientific basis for the clinical treatment of this disease.MethodsRetrospective analysis was performed on 22 children with TSC complicated with refractory epilepsy admitted to Henan People's Hospital from 2017 to 2019, including 11 males and 11 females who met the inclusion criteria, with an average age of (27.91±36.92) months. They were treated with antiepileptic drugs and rapamycin at the same time, and followed up for at least 1 year.To observe the change of seizure frequency before and after treatment with rapamycin.ResultsThe mean reduction rate of seizure frequency in children with tuberous sclerosis complicated with refractory epilepsy was 52.1% 6 months after the addition of rapamycin, and 51.2% 12 months after the addition of rapamycin. The number of seizure-free days could be maintained. The difference before and after the addition of rapamycin was statistically significant (P<0.05).ConclusionThe addition of rapamycin in the treatment of TSC complicated with refractory epilepsy can reduce the frequency of seizure and increase the number of days without seizure, and the adverse reactions are mild/moderate. Rapamycin has certain safety in children with regular follow-up.
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.