With the progress of genetic testing technology, a large proportion of genes associated with epilepsy are revealed. And these genes are often linked to drug-resistant epilepsy (DRE), for which surgical treatment can be an important intervention. This article reviews the progress of surgical treatment for gene-related epilepsy and focuses on influence factors of surgical outcomes, including timing of surgery, extent of lesion resection, and preoperative assessment methods. Through early surgical intervention, some patients with specific gene mutations (eg. TSC), can significantly improve neural development and control epilepsy greatly while some patients with other gene mutations (eg. SCN1A) have less favorable outcomes. Individualized preoperative assessment, accurate localization of the epileptogenic zone, and complete resection of the lesion are key to good prognosis. Although current studies are mostly based on small sample sizes, the existing evidence provides a theoretical foundation for the advancement of epilepsy surgery toward more precise approaches.
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.
Objective To explore the clinical characteristics of patients with combined use of ≥2 kinds of anti-seizure medications in Tibetan plateau. Methods Epilepsy patients who were hospitalized in the People’s Hospital of Tibet Autonomous Region from September 2018 to September 2023 and used ≥2 kinds of anti-seizure medications in combination were selected. Their demographic data such as gender, age, and ethnicity, as well as diagnostic information, medication and other clinical data were collected, and relevant demographic and clinical characteristics were analyzed. In the later stage, telephone follow-up was used to record medication and epileptic seizure control. Results A total of 2295 patients with epilepsy were included, of which 142 (6.2%) met the inclusion criteria, of which 133 (93.7%) were Tibetans. There were more males than females (86 vs. 56, P<0.05), and more minors and young patients than middle-aged and elderly patients (106 vs. 36, P<0.05). 87.3% of the patients underwent magnetic resonance imaging (MRI) or computed tomography (CT), and 71.1% of the patients were abnormal. The main cause of epilepsy was structural etiology (84/142, 59.2%). The most common combination was two drugs (127/142, 89.4%). The largest proportion of combination was sodium valproate and levetiracetam (46/142, 32.4%). After standardized multi-drug combination therapy, the average frequency of epilepsy seizures was significantly reduced compared with the baseline, and the difference was statistically significant (P<0.05). Among the 98 patients aged ≥14 years, 15 cases (15.3%) had drug-refractory epilepsy, 18 cases (18.4%) had seizures controlled by standardized combination medication, 16 cases (16.3%) had seizures controlled by reducing combination medication to a single drug, 5 cases (5.1%) had good control and had stopped medication, 3 cases (3.1%) had frequent epileptic seizures due to poor medication compliance, 15 cases (15.3%) had irregular medication, 17 cases (17.3%) died, and 9 cases (9.2%) were lost. Conclusion The proportion of epilepsy treated with multiple drugs and refractory to drugs was lower than the conclusion of previous studies, and the anti-epileptic effect of multiple drugs was positive. Structural causes (stroke, etc.) are the main causes of epilepsy, and brain parasitic infection is a unique factor of high-altitude epilepsy. Strengthening the standardized use of drugs will help improve the treatment status and prognosis of patients.
ObjectiveTo improve the knowledge of a rare disease named pyridoxine-dependent epilepsy.MethodsHigh-throughput sequencing and Sanger sequencing were used to validate the genes of epilepsy. Mutation gene validation was performed on two probands and their parents. Analyze clinical manifestations, electroencephalogram (EEG), imaging and prognostic features of the two probands.ResultsProbands 1, seizure onset at 4 months, progress as drug-refractory epilepsy, manifested as seizures types origin of multi-focal lesions. Head MRI and fluorodeoxyglucose-positron-based tomography (FDG-PET) were both normal. Gene detection showed that Aldehydedehydrogenase (ALDH7A1) gene has a complex heterozygous mutation contain c.1442G> and c.1046C> T.Proband 2, seizure onset at 5 months, manifested as a tonic-clonic seizure. Intermittent EEG and head MRI were both normal. Genotyping revealed ALDH7A1 gene contain a complex heterozygous mutation c.1547A> G and c.965C> T. Two cases were both seizure free by vitamin B6 therapy and gradually reduce the antiepileptic drugs.ConclusionsPyridoxine-dependent epilepsy may be late onset, some patient can be atypical and early experimental treatment can help to identify and the diagnosis should be confirmed by gene test.
Objective To investigate the task group’s effectiveness in language evaluation based on the task group's functional Magnetic resonance (fMRI) results’ agreement with the fixation side of the Wada language area. MethodsWe collected 90 patients with intractable epilepsy of 90 patients from December 13, 2018 to January 3, 2020 from the Epilepsy Center of Guangdong 999 Brain Hospital. We used two simple fMRI tasks. Among them, 25 patients completed the Wada experimental examination, and 8 patients completed the electrode implantation and subsequent preoperative language area mapping. Adopt block experimental design, ABBA style presentation, and use AFNI software to process fMRI data, lateralization index calculation, and multiple regression analysis. ResultsfMRI results from 90 patients showed that the results from both the sentence-completion task and the image-naming task were more stable than those from either task. The results were then compared with the results of the “gold standard” Wada test in 25 patients with fMRI-located language dominance in the hemisphere. The results showed that the accuracy of the single task was between 70% and 80%, but the accuracy of the combined results of the two tasks was 93.3%. Conclusions Compared with the results of a single task, the results of multiple fMRI tasks are more stable in the judgment of activation range and language dominance hemisphere. fMRI and Wada language area siding accuracy 93.3%, fMRI task siding valid and replicable.
【摘要】 目的 探讨用视频脑电图和MRI诊断药物难治性癫痫的临床价值。 方法 收集2006年12月-2010年5月间经手术和病理证实的药物难治性癫痫患者38例。其中，海马硬化25例，颞叶萎缩伴脑发育不良2例，脑灰质移位及巨脑回4例，血管畸形3例，胶质瘤2例，脑内囊肿1例，外伤性癫痫1例。用视频脑电图监测癫痫发作期及发作间期痫样放电的来源部位及脑电活动特点，用MRI扫描显示痫灶区的表现特征，并与手术、病理改变对照，进行回顾性分析。 结果 视频脑电图对癫痫发作期的致痫灶来源定位准确率为100%（38/38），发作间期定位准确率为53%（20/38）。MRI对发作间期的致痫灶及相关病变定位诊断准确率为89%（34/38），病变定性准确率为79%（30/38）。 结论 视频脑电图和MRI检查有机结合，对药物难治性癫痫，能更有效检出致痫灶的部位及性质，为药物难治性癫痫患者的手术治疗，提供重要信息。【Abstract】 Objective To study the clinical diagnosis value of video-electroencephalography (EEG) and MRI on pharmacal intractable epilepsy. Methods From December 2006 to May 2010, 38 cases of pharmacal intractable epilepsy were confirmed through operation and pathologic examination. Among them, there were 25 cases of hippocampal sclerosis, 2 cases of temporal lobe atrophy combined with brain dysplasia, 4 cases of heterotopic gray matter and macrogyria, 3 cases of vascular malformation, 2 cases of glioma, 1 case of cyst in brain, and 1 case of traumatic epilepsy. Video-EEG was applied to monitor the source of epileptoid discharge and the features of brain electrical activity during and between the occurrences of epilepsy. MRI was used to detect the manifestation characteristics of the epilepsy focus, and retrospective analysis was done to compare these findings with operational and pathological results. Results The accuracy rate of Video-EEG in locating the epilepsy focus was 100% (38/38) during the occurrence of epilepsy, and 53% (20/38) between the occurrences of epilepsy. The accuracy rate of MRI in diagnosing the epilepsy focus and relevant abnormalities during the occurrence of epilepsy was 89% (34/38), and 79% (30/38) in characterizing the abnormalities. Conclusion Video-EEG combined with MRI examination is effective in locating and characterizing the epilepsy focus, which can provide more useful information for the surgery in treating pharmacal intractable epilepsy.
Drug-resistant epilepsy (DRE) not only have disruption of the patients by seizure, but also influence the quality of life, cognitive function and social association, as well as development delay even retrogression for children. Epilepsy surgery is the only curative treatment currently available for focal lesional pharmacoresistant epilepsy, five years complete seizure freedom rates was around 60% after surgery. The criterion of surgical intervention at present is achievement for the diagnosis of DRE, thereafter consideration of early epilepsy surgery, but these maybe a long-term duration. Recent advance in examine methods and surgical techniques have improved the surgical treatment of epilepsy, to such patient with focal lesional structure abnormality, before the DRE emergence, under the discussion of the multidisciplinary team. Children under 3 years old, the brain have greater neural plasticity, early surgical treatment is expected at allow the healthy brain to recover and develop the language function and quality of life. Numerous cause may pose abstracts to the delay of surgical intervention: (1) diagnosis delay; (2) patient himself and their familiar recognize that there have same risk of surgical treatment; (3) the primary doctor firmly believe that epilepsy surgery is the ultimate methods; (4) special problems of the patient, such including: age, comorbidity, and the location of symptom, EEG as well as imaging non-conformation.
Magnetic resonance-guided focused ultrasound (MRgFUS) is an emerging therapeutic ultrasound modality that integrates the precise localization capabilities of magnetic resonance imaging with the non-invasive therapeutic properties of focused ultrasound (FUS). This technology enables accurate targeting of deep brain structures and facilitates the treatment of various central nervous system disorders, including essential tremor, Parkinson's disease, and chronic neuropathic pain, through mechanisms such as ablation of diseased tissue, modulation of neural activity, and disruption of the blood-brain barrier. However, its efficacy and safety in the treatment of drug-resistant epilepsy (DRE) remain subjects of ongoing research. Consequently, MRgFUS is under investigation to ascertain its effectiveness and safety profile for treating DRE. This review aims to summarize the current progress in the application of MRgFUS for DRE therapy.
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.