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 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.
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.
Objective To investigate the clinicalmanifestations, electroencephalogram (EEG) characteristics, surgical treatment and prognosis of epilepsy secondary to Sturge-Weber syndrome (SWS) in children.Methods The data of 7 children with epilepsysecondaryto Sturge-Weber syndrome who were treated by surgery from May 2015 to May 2020 in our Children's Epilepsy Center were retrospectively reviewed. Their demographic characteristics, seizure forms, results of EEG and cranial imaging investigations, surgical methods, postoperative pathological reports and prognosis during follow-upwere summarized and analyzed. The prognosis were evaluated byEngel classificationat the last time point during follow-up. Results Totally 7 pediatric patients were enrolled, including 1 male (16/25, 64.0%) and 6 females.All the 7 cases presented with focal seizures at the onset among whom 2 cases developed status epilepticus during the course of the disease(epilepsiapartialiscontinuain 1 case),one case had epileptic spasmsand 1 case was characterized by cluster seizures. The interictal EEG manifestations of the cases gradually deteriorated as the course of the disease prolonged, including the slow wave on the affected side gradually increases (7/7), the amplitude gradually decreases (7/7), and the physiological wave disappears (4/7). Besides, no epileptiform discharges/incidental or a few epileptiform dischargeswere found in their interictal EEGs. Four cases underwent hemispherotomy, 1 case underwent temporo-parieto-occipital disconnection and 2 cases underwent lesion resection. The cases were followed up for 6 months to 5 years, and the average follow-up duration was 79.29 months. Six cases were rated as Engel Ⅰa during the regularfollow-up. Only 1 case was rated asEngel Ⅱ and Engel Ⅲ at 3 month and 1 year after the operation. ConclusionChildren with epilepsy secondary to SWS usually present with focal seizures and have diverse seizure forms. The EEG show characteristic changes. For the caseswith drug refractory epilepsy, detailed preoperative evaluation and reasonable surgical methods can result in a better therapeutic effect.
ObjectiveTo investigate the effect of medical counseling games on ketogenic diet therapy for drug-resistant epilepsy children. MethodsA total of 98 children with drug-resistant epilepsy admitted to the neurology ward of Shenzhen Children's Hospital from January 2023 to June 2024 who were treated with ketogenic diet for the first time were selected as the study objects by random number table method, and were divided into observation group (n=49) and control group (n=49). The control group received the traditional multidisciplinary team health education mode, while the observation group received the ketogenic diet treatment based on the multidisciplinary team health education mode and participated in the customized medical counseling games intervention. The time of children reaching ketosis, the knowledge level of ketogenic diet caregivers and the retention rate of children on ketogenic diet were compared between the two groups. ResultsThe time of ketosis in observation group was earlier than that in control group (P<0.05). The knowledge level of the main caregivers of ketogenic diet and the retention rate of children with ketogenic diet at 3 months and 6 months in observation group were higher than those in control group (P<0.05). ConclusionThe use of medical counseling games in the ketogenic diet for medically refractory epilepsy is an effective therapeutic strategy that facilitates the early attainment of ketosis in children with medically refractory epilepsy, improves the knowledge of caregivers on the ketogenic diet, improves retention of children on the ketogenic diet, and serves to optimize the effectiveness of clinical outcomes, which may contribute to the quality of life of children with medically refractory epilepsy.
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.
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.
【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.
ObjectiveTo understand the relationship between the anatomy and the function of the insula lobe cortex based on the stereo-electro encephalography (SEEG) by direct electric stimulation of the insula cortex performed in the patients who suffered from the refractory epilepsy. MethodsRetrospective review was performed on 12 individuals with refractory epilepsy who were diagnosed in the Department of Functional neurosurgery of RenJi Hospital from December 2013 to September 2015. We studied all the SEEG electrodes implanted in the brain with contacts in the insula cortex. Direct electric stimulation was given to gain the brain mapping of the insula. Results12 consecutive patients with refractory epilepsy were implanted SEEG electrodes into the insula cortex. In all, 176 contacts were in the insula cortex, and 154 were included. The main clinical manifestations obtained by the stimulation were somatosensory abnormalities, laryngeal constriction, dyspnea, nausea, flustered. While somatosensory symptoms were located in the posterior insula, visceral sensory symptoms distribute relatively in the anterior insula, and other symptoms were mainly in the central and anterior part. ConclusionsThe symptoms of the insula present mainly according to the anatomy, but some of them are mixed. In addition, the manifestations of the insula are usually complex and individually.