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.
ObjectiveTuberous sclerosis complex (TSC) is a multisystem disease, which often manifests as refractory epilepsy in the nervous system and multifocality in Magnetic resonance imaging (MRI). We summarized patients with TSC whose peripheral blood gene test was negative,and analyzed their medical history, EEG, MRI and postoperative conditions. MethodsWe summarized and analyzed 205 patients with TSC diagnosed clinically and pathologically and underwent surgery from April 2008 to February 2024. 11 patients with TSC whose peripheral blood gene test was negative and underwent surgery were screened out.All patients underwent gene examination, MRI and long-range video EEG monitoring. All patients underwent detailed preoperative evaluation and direct resection surgery, intracranial electrode thermocoagulation surgery or laser surgery. ResultsOf the 11 patients with peripheral blood gene test negative, 11 (100%) patients achieved Engel Ⅰ within 1 year after surgery, and 10 (91%) patients achieved Engel Ⅰwithin 2 years. The median age of onset of 11 patients was 6 months, and 8 patients (73%) had onset less than 1 year old. All patients had multiple nodules in the brain. Except for the brain, the changes of the other organs were polycystic kidney and skin changes in 2 patients, skin changes in 8 patients, and normal in 1 patients. ConclusionTSC patients with peripheral blood gene negative who have young onset age, frequent seizures, and multiple nodules on MRI often present with refractory epilepsy. However, the postoperative effect is good, and the postoperative EEG of most patients is normal.
ObjectiveTo study the therapeutic efficacy of stereoelectroencephalography (SEEG)-guided radiofrequency thermo-coagulation ablation (RF-TC) in the treatment of tuberous sclerosis (TSC) related epilepsy and to investigate the prediction of the therapeutic response to SEEG-guided RF-TC for the efficacy of the subsequent surgical treatment. MethodsWe retrospectively analyze TSC patients who underwent SEEG phase II evaluation from January 2014 to January 2023, and to select patients who underwent RF-TC after completion of SEEG monitoring, study the seizure control of patients after RF-TC, and classify patients into effective and ineffective groups for RF-TC treatment according to the results of RF-TC treatment, compare the surgical outcomes of patients in the two groups after SEEG, to explore the prediction of surgical outcome by RF-TC treatment. Results59 patients with TSC were enrolled, 53 patients (89.83%) were genetic detection, of which 28 (52.83%) were TSC1-positive, 21 (39.62%) were TSC2-positive, and 4 (7.54%) were negative, with 33 (67.34%) de novo mutations. The side of the SEEG electrode placement: left hemisphere in 9 cases, right hemisphere in 13 cases, and bilateral hemisphere in 37 cases. 37 patients (62.71%) were seizure-free at 3 months, 31 patients (52.54%) were seizure-free at 6 months, 29 patients (49.15%) were seizure-free at 12 months, and 20 patients (39.21%) were seizure-free at 24 months or more. 11 patients had a seizure reduction of more than 75% after RF-TC, and the remaining 11 patients showed no significant change after RF-TC. There were 48 patients (81.35%) in the effective group and 11 patients (18.65%) in the ineffective group. In the effective group, 22 patients were performed focal tuber resection laser ablation, 19 cases were seizure-free (86.36%). In the ineffective group, 10 patients were performed focal tuber resection laser ablation, only 5 cases were seizure-free (50%), which was a significant difference between the two groups (P<0.05). ConclusionsOur data suggest that SEEG guided RF-TC is a safe and effective both diagnostic and therapeutic treatment for TSC-related epilepsy, and can assist in guiding the development of future resective surgical strategies and determining prognosis.
ObjectiveTo analyze the electro-clinical characteristics and surgical outcome of low-grade developmental tumors in temporal lobe. MethodsThe onset age, seizure duration, seizure types, electroencephalogram and surgical outcome of 49 patients with low-grade developmental tumor of temporal lobe were analyzed retrospectively. ResultsTwo groups of the seizure types were divided. The first group was spasm, the other was focal onset. There were 12 cases in spasm group, with an average onset age of (1.00±0.59) years. The discharge was extensive and multi-brain-area locaded, especially in the temporal montages and the ipsilateral posterior montages. There were 37 cases in second group, with an average onset age of (8.90±8.84) years, mainly including autonomic seizure, tonic seizure and automotor seizure. In this group, the discharge was mainly recorded in the temporal montages, which could spread to the frontal montages and less locaded in posterior montages. The difference of onset age between the two groups was statistically significant (P<0.01). The average follow-up of spasm group was (2.80±1.57) years, and the surgical outcome of all patients in this group were all Engel I (100.00%, 12/12). The focal onset group was followed up for an average of (6.50±4.78) years, and the rate of Engel I was 91.80% (34/37). There was no significant difference between the two groups (P>0.05). ConclusionsFor low-grade developmental tumors in temporal lobe, there are two seizure types, including spasm and focal onset. The onset age of spasm is earlier, while patients with focal onset mostly start at childhood or older, rare in infancy. Surgery has a good effect on the treatment of temporal lobe developmental tumor epilepsy.
