Objective To retrospectively analyze the epidemiology, clinical characteristics and causes of misdiagnosis of Juvenile myoclonic epilepsy (JME) in Xinjiang Uygur Autonomous Region, so as to provide basis for improving the diagnosis and treatment of JME. Methods 979 patients with epilepsy in Xinjiang Uygur Autonomous Region were analyzed retrospectively. There.were515males and 464females,average.age(18.66+8.31)years,.The epidemiological characteristics of JME were analyzed. The clinical characteristics, EEG, treatment effect and prognosis of patients diagnosed with JME were analyzed. The causes of misdiagnosis, missed diagnosis and delayed treatment were analyzed. Results The proportion of JME in 979 patients with epilepsy was 1.4%, a total of 14 cases. The median age of onset was (15+5.83) years, the median time from onset to treatment was 3 years, and the median time from onset to diagnosis was 6 years. All patients showed myoclonic seizures, 13 cases were complicated with generalized tonic clonic seizures, and 4 cases were accompanied by absence seizures. EEG findings include normal background activity, 3-6 Hz generalized spikes or frontal dominant multiple spikes at the beginning of arousal. seven patients were treated with levetiracetam, and the other seven patients were treated with lamotrigine and / or sodium valproate. Incomplete collection of medical history and failure to describe the medical history in detail are the main reasons for delaying diagnosis. Conclusion Juvenile myoclonic epilepsy is an treatable disease, but it is easy to be misdiagnosed. The rate of misdiagnosis and missed diagnosis of JME in Xinjiang is higher, and the delay of diagnosis and treatment is longer. The inquiry of more detailed and demonstrative medical history is of great significance to improve the diagnostic accuracy.
ObjectiveBenign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We aim to investigate gene mutations and the relationship between genotypes and clinical phenotypes in benign familial epilepsies in the first year of life.MethodsWe recruited families with benign familial epilepsies in the first year of life at Peking University First Hospital from September 2006 to January 2018. Clinical information and blood samples were obtained from probands and their family members. For BFIE families, mutation screening of PRRT2 was performed by using the polymerase chain reaction (PCR) and Sanger sequencing at first. The PRRT2 mutation negative probands of BFIE families were further screened for pathogenic mutations by targeted next-generation sequencing. The probands of BFNE and BFNIE families were screened for pathogenic mutations by targeted next-generation sequencing.ResultsA total of 89 families with benign familial epilepsies in the first year of life were collected. Of the 89 families, 4 were classified as BFNE, 7 as BFNIE, and 78 as BFIE. Genetic testing led to the identification of gene mutations in 68 families (76.4%), including 50 families had PRRT2 mutations (hotspot mutation c.649dupC was detected in 32 families; c.649delC was detected in 6 families), 9 families had KCNQ2 mutations, 8 families had SCN2A mutations, and one family had GABRA6 mutation. In the 4 BFNE families, causative mutations were only found in KCNQ2, which was identified as the causative gene in 3 families. The remaining one BFNE family was not detected with any pathogenic mutation. All 7 BFNIE families had identifiable gene mutations, KCNQ2 was found in 3 families, SCN2A in 3 families, and PRRT2 in one family. In the 78 BFIE families, gene mutations were identified in 58 families (74.4%), with PRRT2 mutations found in 49 families (62.8%), SCN2A mutations found in 5 families, KCNQ2 mutations found in 3 families, and a novol GABRA6 mutation found in one family. Twenty BFIE families were not identified with any gene mutations. In 78 BFIE families, 18 were subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). 17 of 18 ICCA families were detected with PRRT2 mutations (17/18, 94.4%). The remaining ICCA family was not detected with any pathogenic mutation.ConclusionsOur results confirmed that mutations in KCNQ2, SCN2A, and PRRT2 are major genetic causes of benign familial epilepsy in the first year of life in the Chinese population. KCNQ2 is the major gene related to BFNE. PRRT2 is the main gene responsible for BFIE. KCNQ2 and SCN2A mutations are common in BFNIE families. GABRA6 mutation might be a new cause of BFIE. Identification of underlying gene mutation can be helpful for clinical diagnosis and judgement of the prognosis.
Objective To improve the satisfaction of standardized remote consultation of epilepsy center in patients with refractory epilepsy, and initially establish a standardized remote consultation model of three-level comprehensive epilepsy center. Methods Based on the characteristics of our epilepsy center, we designed a set of standardized remote consultation process of epilepsy center in tertiary hospitals, including sorting out patient data before consultation, improving examination, application of multi-modal technology during consultation, notification of results after consultation, and decision of operation time and method. A total of 209 patients who received remote consultation in our epilepsy center from January 2022 to June 2023 were selected as the observation group, and 150 patients who received offline consultation in our epilepsy center during the same period were randomly selected as the control group. The satisfaction of patients in the two groups on the service of doctors and nurses in consultation and the consultation results were compared. Results Through the application of the new multi-modal remote consultation mode, the number of consultations gradually increased, Compared with the offline consultation mode, there was no significant difference in patients' satisfaction with the service of doctors and nurses in remote consultation mode (P<0.05). Conclusion The establishment of standardized remote consultation mode in epilepsy center has effectively reduced the economic burden of patients, simplified the medical treatment process and improved the service quality, but the consultation quality has not been affected.
To analyze the adverse drug reactions (ADRs) induced by levetiracetam, providing a scientific basis and reference for clinical safe and rational drug use.Using Chinese search terms such as "levetiracetam", " antiepileptic", "adverse drug reaction", "side effect", and English search terms such as "levetiracetam", "antiepileptic", "adverse reaction", "ADR", "side effect", and "induced", we conducted a literature search in databases including CNKI, Wanfang Data, VIP Biomedical Database, PubMed, and Web of Science from the inception of the databases until March 1, 2025. Relevant information was extracted and statistically analyzed. A total of 39 articles were included, involving 46 patients, of which 24 were male (52.17%) and 22 were female (47.83%). ADRs involved 9 organ/systems, primarily the nervous system (39.13%), muscular system (32.61%), skin (13.04%), and urinary system (10.87%), including symptoms such as irritability, hallucinations, cognitive impairment, rhabdomyolysis, papules, and frequent urination. ADRs induced by levetiracetam affect multiple organ/systems. During clinical use, patient conditions should be regularly monitored, and the dosage should be promptly reduced or discontinued upon the occurrence of adverse reactions to mitigate clinical risks.
Epilepsy is a clinical syndrome characterized by recurrent epileptic seizures caused by various etiologies. Etiological diagnosis and localization of the epileptogenic focus are of great importance in the treatment of epilepsy. Positron emission tomography-computed tomography (PET-CT) technology plays a significant role in the etiological diagnosis and localization of the epileptogenic focus in epilepsy. It also guides the treatment of epilepsy, predicts the prognosis, and helps physicians intervene earlier and improve the quality of life of patients. With the continuous development of PET-CT technology, more hope and better treatment options will be provided for epilepsy patients. This article will review the guiding role of PET-CT technology in the diagnosis and treatment of epilepsy, providing insights into its application in etiological diagnosis, preoperative assessment of the condition, selection of treatment plans, and prognosis of epilepsy.
The acid-base balance of the brain is critical to the functioning of the nervous system. The mechanisms that maintain acid-base homeostasis in the brain are complex and regulated by a variety of transporter proteins and enzymes. Slight changes in acid-base balance can affect neuronal excitability and even lead to epilepsy. Epilepsy is a common neurological disease with complex pathogenesis and numerous causes. Drug therapy is still the main method, but the treatment effect is limited. Therefore, it is urgent to clarify the pathological mechanism of epilepsy and explore new treatment directions This study provides an overview of the transporter proteins (acid-sensing ion channel, Na+/H+ exchanger, Na+/HCO3- cotransporters, anion exchangers, carbonic anhydrases) and the regulation of acid-base balance in the lungs. This study also introduces how these transporters participate in the stable maintenance of brain acid-base balance and their influence in epileptogenesis from both basic and clinical aspects in detail, providing new targets for epilepsy treatment and intervention.
Gelastic seizure (GS) is a type of epilepsy characterized primarily by inappropriate bursts of laughter, with or without other epileptic events. Based on the timing of symptoms, the presence of emotional changes, and disturbances of consciousness, GS is classified into simple and complex types. The generation of laughter involves two major neural pathways: the emotional pathway and the volitional pathway. The neural network involved in GS includes structures such as the frontal lobe, insula, cingulate gyrus, temporal lobe, and brainstem.The most common cause of GS is a hypothalamic hamartoma, and stereotactic electroencephalography can record discharges from the lesion itself. Surgical removal of the hypothalamic hamartoma can result in immediate cessation of GS in the majority of patients, while some may experience partial improvement with persistent epileptic-like discharges detectable on scalp electroencephalography (EEG). Early surgical intervention may improve prognosis.In cases of non-hypothalamic origin of GS with no apparent imaging abnormalities, focal discharges are often observed on EEG and these cases respond well to antiepileptic drugs. Conversely, patients with structural abnormalities suggested by imaging studies tend to have multifocal discharges and a poorer response to medication. In a small subset of medically refractory non-hypothalamic GS, surgical intervention can effectively control symptoms.This article provides a comprehensive review of the etiology, neural networks involved, EEG characteristics, and treatment options for GS, with the goal of improving understanding of this relatively rare type of epileptic seizure.
Objective To observe the apoptosis of hippocampal dentate gyrus in rats with pentrolone model of epilepsy, and detect the significance of apoptosis-inducing factor (AIF) and Caspase-3 joint expression. Methods Twelve Wistar rats were randomly divided into model group and control group with 6 in each. Intraperitoneal injection of pentrolone was carried out for rats in the model group, while physiological saline was injected in rats of the control group. After the model was successfully established, we observed the Nissl staining results of hippocampus dentate gyrus tissue in the rats as well as the expression of AIF and Caspase-3 protein in both groups. Results The single visual nerve cell counts of the control group and the model group under 400-times magnification were respectively 99.76±11.89 and 78.69±10.94; Caspase-3 gray values of the two groups were respectively 154.81±16.06 and 131.65±16.81; and AIF protein gray values were respectively 173.09±9.57 and 158.34±6.33. All the above differences were statistically significant (P<0.05). Conclusion The two apoptotic pathways through Caspase-3 dependent on Caspase and AIF independent of Caspase are both involved in the neuronal apoptosis induced by epilepsy.
ObjectiveTo analyze the clinical and genetic characteristics of ADGRV1 gene mutation epilepsy.MethodsA retrospective collection of 26 patients with epilepsy diagnosed and related gene sequencing was performed in the Affiliated Hospital of Jining Medical College from January 2018 to December 2018. Five epilepsy patients with ADGRV1 mutations were screened out, and their clinical characteristics and gene mutation characteristics were summarized.ResultsA total of 5 epilepsy patients with ADGRV1 mutation were collected, including 1 male and 4 females, with an average age of (7±5.83) years. Three patients had a family history of epilepsy, and the father of the other two patients had a history of febrile seizures. 2 cases showed generalized tonic-clonic seizures, and 3 cases showed partial seizures followed by generalized seizures. The results of genetic testing revealed 7 mutation sites in the ADGRV1 gene, of which one missense mutation site c.2039A>G has been reported in the literature. Two of the 5 patients underwent epilepsy surgery, and they were still treated with multiple anti-epileptic drugs for a long time after the operation, and the other 3 patients were treated with anti-epileptic drugs for a long time. At present, 4 out of 5 patients had seizures still not under effective control, and 1 case did not relapse after being followed up for nearly 1 year.ConclusionThe clinical features of epilepsy caused by ADGRV1 gene mutation are early onset, mainly manifested as general tonic-clonic seizures or partial seizures secondary to generalized seizures, accompanied by disturbance of consciousness during seizures. The combined treatment of anti-epileptic drugs and postoperative anti-epileptic drugs is less effective. Genetic testing can guide genetic counseling and assisted diagnosis.
Epilepsy is a common neurological disorder that affect patients' cognitive function and their mental health, imposing a huge burden on families and society. There are approximately 50 million epilepsy patients worldwide, with a prevalence rate of 4‰~7‰ in China, including about 6 million active epilepsy patients. Although scientists have been devoted to the research and exploration of epilepsy, the causes and pathological mechanisms of epilepsy are still poorly understood. The effectiveness of anti-seizure drugs is limited, and more effective methods is needed. With the deepening of microbiological research, many studies have found significant differences in the composition of the intestinal microbiota of epilepsy patients compared to healthy individuals. Analysis of the intestinal microbiota of epilepsy patients through sequencing has shown significantly lower abundances of Bacteroidetes and Firmicutes compared to the normal population. Many related clinical studies have found that adopting a ketogenic diet, taking probiotics orally, using antibiotics, or fecal microbiota transplantation (FMT) can effectively control epilepsy by normalizing the intestinal microbiota. Various studies suggest a possible connection between the intestinal microbiota and epilepsy, recognizing that the intestinal microbiota can have an impact on the central nervous system. As a result, gut-brain axisis gradually recognized by scientists. Therefore, the role of the intestinal microbiota in epilepsy is gradually being recognized, and recent clinical studies have confirmed that supplementing probiotics can effectively reduce seizure frequency and improve comorbidities, which may become a new method for treating epilepsy.