Acta Epileptologica

Jiabin Yu

Yinchao Li

Xuan Xie

Liming Cheng

Shaofang Zhu

Lisen Sui

Youliang Wu

Xuemin Xie

Haitao Xie

Xiaojing Zhang

Chun Chen

Yingying Liu

Outcome predictors in patients with temporal lobe epilepsy after temporal resective surgery

颞叶切除术后颞叶癫痫患者的预后预测因素

Abstract Background Developmental and epileptic encephalopathy (DEE) is a group of neurodevelopmental disorders characterized by early-onset seizures predominantly attributed to genetic causes. Nevertheless, numerous patients remain without identification of a genetic cause. Methods We present four unrelated Chinese patients with SPOUT1 compound heterozygous variants, all of whom were diagnosed with DEE. We also investigated functions of SPOUT1 using the spout1 knockout zebrafish model. Results The four unrelated DEE patients with SPOUT1 compound heterozygous variants were all males. Their onset age of seizure ranged from 3 months to 6 months (median age 5 months). All patients had epileptic spasms, and were diagnosed with infantile epileptic spasms syndrome (IESS). Three patients had microcephaly during infancy. Brain MRI in three patients showed white matter hypomyelination and bilaterally widened frontotemporal subarachnoid space. At the last follow-up, two patients exhibited drug-resistant epilepsy, one achieved seizure freedom following vigabatrin treatment, and one died at the age of 4 years and 5 months from probable sudden unexpected death in epilepsy. Seven different SPOUT1 variants were identified in the four patients, including six missense variants and one deletion variant. AlphaFold2 prediction indicated that all variants alternated the number or the length of bonds between animo acids in protein SPOUT1. Neurophysiological results from spout1 knockout zebrafish revealed the presence of epileptiform signals in 9 out of 63 spout1 knockout zebrafishes ( P = 0.009). Transcriptome sequencing revealed 21 differentially expressed genes between spout1 knockout and control groups, including 13 up-regulated and 8 down-regulated genes. Two axonal transport-related genes, kif3a and ap3d1 , were most prominently involved in enriched Gene Ontology (GO) terms. Conclusions This study identified SPOUT1 as a novel candidate gene of DEE, which follows the autosomal-recessive inheritance pattern. IESS is the most common epilepsy syndrome. Downregulation of axonal transport-related genes, KIF3A and AP3D1 , may play a crucial role in the pathogenesis of DEE.

Wenwei Liu

Kai Gao

Xilong Du

Sijia Wen

Huifang Yan

Jingmin Wang

Yong Wang

Conglei Song

Li Lin

Taoyun Ji

Weiyue Gu

Yuwu Jiang

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

SPOUT1变异与常染色体隐性发育性和癫痫性脑病相关

Abstract Post-stroke epilepsy (PSE) is a common complication of stroke, significantly impacting patient’s quality of life. Repetitive transcranial magnetic stimulation (rTMS) is an emerging potential non-invasive treatment for PSE. This review explores current evidence for rTMS in PSE, highlighting its potential benefits and limitations. Initial studies suggested that rTMS may reduce the seizure burden. Some studies observed a trend towards fewer seizures within two weeks of treatment initiation, indicating a relatively rapid response. Additionally, rTMS may be more effective when used in combination with medication, particularly for patients with specific lesion locations (frontal/temporal lobes) and seizure types (complex partial seizures). This points towards the potential of personalized treatment protocols. However, current evidence has limitations. Studies often involve small sample sizes and methodological variations, necessitating larger, well-designed trials with standardized protocols to confirm the efficacy and safety of rTMS in PSE. Future research should also focus on the optimization of treatment parameters, including stimulation frequency, duration, coil placement, and treatment course. Long-term studies are needed to evaluate the persistence of treatment effects on seizure control, cognitive function, and overall patient outcomes. Refining patient selection criteria and investigating the underlying mechanisms of therapeutic effects of rTMS in PSE are also crucial areas for future exploration.

Nicholas Aderinto

Gbolahan Olatunji

Emmanuel Kokori

Ikponmwosa Jude Ogieuhi

Abdulrahmon Moradeyo

Owolabi Samuel

Adetola Emmanuel Babalola

Tejiri Napoleon

Wuraola Awosan

Oluwaseun Oyewo

Chidinma Udojike

Oluwatobi Omoworare

Yewande Abigail Adebayo

Repetitive transcranial magnetic stimulation for post-stroke epilepsy: a mini-review

重复经颅磁刺激治疗卒中后癫痫：一篇小综述

Abstract Background Liver damage, coagulopathy, hyperammonemia, fracture, menstrual disorder and amenorrhea are the most concerned adverse drug reactions of valproic acid (VPA). This study was aimed to retrospectively investigate the incidence of adverse drug reactions of VPA in the real world and its association with the age of patients and duration of treatment in order to obtain the safety data of VPA in children with epilepsy. Methods A total of 1943 patients diagnosed as epilepsy by the Pediatric Neurology Department of Shenzhen Children’s Hospital between December 2013 and December 2023, were included in the study. They received VPA as an initial treatment, and had followed up examinations over a time span of at least two years focusing on the adverse drug reactions of VPA. Results There was no significant difference in the incidence of liver damage, coagulation test abnormalities, and nasal bleeding during VPA monotherapy (30–90 days, 90–180 days, and &gt; 2 years). Adolescent female patients (first visit age ≥ 12 years) showed no significant difference in the incidence of adverse reactions and abnormal ultrasound of the reproductive system pre- versus post-treatment at the first visit, similar for those below 12 years. However, laboratory blood tests revealed significantly age-dependent changes in certain biochemical markers. Two patients stopped VPA treatment due to thrombocytopenia and ovarian cystic mass comorbid with endometrial hyperplasia, recovering after VPA withdrawal. Conclusions The initial monotherapy of VPA is generally safe in children with epilepsy of all age ranges. In the real world, VPA does not increase the risk of liver damage, coagulation disorder, elevated blood ammonia, fractures, or low serum sodium, but may significantly decrease the platelet count at 3, 6, 12, and 24 months of treatment. There is no evidence showing that VPA may increase the incidence of impairment of adolescent female reproductive system. Among children under 1 year old, it is recommended to monitor the levels of serum ammonia and aspartate aminotransferase carefully. Trial registration ChiCTR2300075115.

Xiner Chen

Yujie Zhang

Xinan Liu

Ruoyu Tan

Dezhi Cao

Li Chen

Yan Hu

Bing Li

Tieshuan Huang

Qiang Zhou

Jialun Wen

Jianxiang Liao

The safety of valproic acid treatment in children with epilepsy: a retrospective real-world research

儿童癫痫患者使用丙戊酸治疗的安全性：一项回顾性真实世界研究

Abstract Background Studies on the association between oxidative stress and epilepsy have yielded varied results. In this study, we aimed to investigate the causal relationship between oxidative stress markers and epilepsy. Methods A bidirectional two-sample Mendelian randomization (MR) study was performed based on publicly available statistics from genome-wide association studies. To explore the causal effects, single nucleotide polymorphisms were selected as instrumental variables. Inverse-variance weighted method was performed for primary analysis, supplemented by weighted median, MR-Egger, simple mode, and weighted mode. Furthermore, sensitivity analyses were performed to detect heterogeneity and pleiotropy. Results Our results showed that part of the oxidative stress biomarkers are associated with epilepsy and its subtypes. Zinc is associated with increased risk of epilepsy and generalized epilepsy (odds ratio [OR] = 1.064 and 1.125, respectively). Glutathione transferase is associated with increased risk of generalized epilepsy (OR = 1.055), while albumin is associated with decreased risk of generalized epilepsy (OR = 0.723). Inverse MR analysis revealed that epilepsy is associated with increased levels of uric acid and total bilirubin (beta = 1.266 and 0.081, respectively), as well as decreased zinc level (beta = − 0.278). Furthermore, generalized epilepsy is associated with decreased ascorbate and retinol levels (beta = − 0.029 and − 0.038, respectively). Conclusions Our study presented novel evidence of potential causal relationships between oxidative stress and epilepsy, suggesting potential therapeutic targets for epilepsy.

Lan Zhang

Ningning Zhang

Xuyan Sun

Sirui Chen

Yuanhang Xu

Yaqing Liu

Junqiang Li

Dadong Luo

Xin Tian

Tiancheng Wang

The associations between oxidative stress and epilepsy: a bidirectional two-sample Mendelian randomization study

氧化应激与癫痫的关联：一项双向两样本孟德尔随机化研究

Abbreviation	Acta Epileptol.
Journal Impact	1.28
Quartiles(Global)	CLINICAL NEUROLOGY(Q4)

Publication Information	Publisher: BioMed Central Ltd，Publishing cycle: ，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 2019，Proportion of original research papers: ，Self Citation Rate:， Gold OA Rate:

Acta Epileptologica

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Outcome predictors in patients with temporal lobe epilepsy after temporal resective surgery

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Repetitive transcranial magnetic stimulation for post-stroke epilepsy: a mini-review

The safety of valproic acid treatment in children with epilepsy: a retrospective real-world research

The associations between oxidative stress and epilepsy: a bidirectional two-sample Mendelian randomization study

Outcome predictors in patients with temporal lobe epilepsy after temporal resective surgery

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Repetitive transcranial magnetic stimulation for post-stroke epilepsy: a mini-review

The safety of valproic acid treatment in children with epilepsy: a retrospective real-world research

The associations between oxidative stress and epilepsy: a bidirectional two-sample Mendelian randomization study

ISSN	2096-9384, 2524-4434
h-index	7