Journal of epilepsy research最新文献_第2页

Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report 意外摄入乙醇后出现生物素-硫胺素反应性基底节疾病：病例报告

Journal of epilepsy research Pub Date : 2023-12-31 DOI: 10.14581/jer.23010

Abdullah Nasser Aldosari, Aida Arisha, Ahmed Ibrahim, Mohamed Gongi

{"title":"Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report","authors":"Abdullah Nasser Aldosari, Aida Arisha, Ahmed Ibrahim, Mohamed Gongi","doi":"10.14581/jer.23010","DOIUrl":"https://doi.org/10.14581/jer.23010","url":null,"abstract":"Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, inherited neurometabolic disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that are often triggered by infections. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine. Herein, we report a 2 and a half-year-old Saudi girl presented with an acute onset of ataxia, slurred speech, and dysphagia, which was preceded by a history of accidental ingestion of around 20 mL of ethyl alcohol that is used in formulating perfumes 1 day earlier. Her older brother had a similar clinical presentation and was diagnosed with BTBGD. The patient was fully alert and spoke in full sentences with dysarthria. She was unable to walk unassisted. Investigation revealed a positive toxicity test for ethyl alcohol (10 mg/dL), and brain magnetic resonance imaging showed basal ganglia changes consistent with BTBGD. The dramatic response to high doses of thiamine suggested SLC19A3 as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A>G (p.Thr422Ala) mutation. Patients with BTBGD should be cautious and aware of ethyl alcohol products, which can lead to a BTBGD crisis. The administration of a high dose of thiamin may be required in patients who have not responded to the recommended dose. Further clinical research is required to determine the optimal doses.","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cardiac Abnormalities in Refractory Status Epilepticus-an Exploratory Study 难治性癫痫状态中的心脏异常--一项探索性研究

Journal of epilepsy research Pub Date : 2023-12-31 DOI: 10.14581/jer.23007

Deepika Saroha, Samhita Panda, S. Deora, Sadik Mohammed

{"title":"Cardiac Abnormalities in Refractory Status Epilepticus-an Exploratory Study","authors":"Deepika Saroha, Samhita Panda, S. Deora, Sadik Mohammed","doi":"10.14581/jer.23007","DOIUrl":"https://doi.org/10.14581/jer.23007","url":null,"abstract":"Background and Purpose: Cardiac abnormalities have been reported during ongoing seizures and refractory status epilepticus (RSE). Reduced heart rate variability (HRV) and cardiac arrhythmias may contribute to sudden unexpected death in epilepsy. We sought to explore the utility of electrocardiographic and echocardiographic changes in patients with RSE prognosis and functional outcome.Methods: Patients of RSE underwent electrocardiogram (ECG), holter, troponin-I (Trop I), N-terminal prohormone of brain natriuretic peptide (NT-proBNP), and 2-dimensional echocardiogram (2D Echo) along with continuous electroencephalogram in first 24 hours and admission. Heart rate changes/arrhythmias, corrected QT interval (QTc) and HRV, ventricular dysfunction or regional motion wall abnormality were studied on 2D Echo. These parameters were also at baseline, at discharge or death and 30 days post discharge.Results: This prospective observational study conducted over 18 months enrolled 20 patients with RSE, fulfilling the inclusion criteria. Mean age was 47.75±17.2 years with male: female ratio of 1:1. Mean time to presentation from seizure onset was 8.80±7.024 hours. Central nervous system infection (35.0%), autoimmune encephalitis (20.0%) and cerebrovascular disease (20.0%) were the common etiologies. Amongst cardiac injury markers, cardiac enzymes and QTc prolongation were the commonest abnormalities in RSE. Both reduced HRV and presence of cardiac injury markers had significant correlation with poor outcome along with poor Glasgow coma scale (GCS) and modified Rankin scale (mRS) at presentation, and presence of non convulsive status epilepticus (NCSE).Conclusions: Presence of poor GCS, poor mRS, markers of cardiac injury, reduced HRV and occurrence of NCSE have a consistent correlation with mortality and poor clinical outcome. Therefore, routine assessment of cardiac abnormalities using affordable, easily accessible and non-invasive tools such as ECG, 2D Echo, holter NT-proBNP and Trop I is recommended in RSE patients.","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Headache Is a Common Aura in Patients with Generalized Seizures 头痛是全身性癫痫发作患者的常见先兆

Journal of epilepsy research Pub Date : 2023-12-31 DOI: 10.14581/jer.23008

D. Kwack, Dong Wook Kim

引用次数: 0

Issues of Women with Epilepsy and Suitable Antiseizure Drugs 女性癫痫患者与合适的抗癫痫药物问题

Journal of epilepsy research Pub Date : 2023-12-31 DOI: 10.14581/jer.23005

Sang Kun Lee

{"title":"Issues of Women with Epilepsy and Suitable Antiseizure Drugs","authors":"Sang Kun Lee","doi":"10.14581/jer.23005","DOIUrl":"https://doi.org/10.14581/jer.23005","url":null,"abstract":"Seizure aggravation in women with epilepsy (WWE) tends to occur at two specific times during the menstrual cycle: the perimenstrual phase and the ovulation period. Antiseizure drugs (ASDs), especially those that induce enzymes, can accelerate the metabolism of hormones in oral contraceptives, rendering them less effective. Estrogen in contraceptive pills increases the metabolism of lamotrigine. Physiological changes during pregnancy can significantly impact the pharmacokinetics of ASDs, potentially necessitating adjustments in dosage for women with epilepsy to maintain seizure control. The use of valproate in pregnant women is associated with the highest risk of major congenital malformations among ASDs. Risks of major congenital malformations associated with lamotrigine, levetiracetam, and oxcarbazepine were within the range reported in the general population. Exposure to valproate can lead to lower IQ in offspring. Reduced folic acid levels are linked to orofacial clefts, cardiovascular malformations, and urogenital and limb anomalies in WWE. Decreased folate levels are expected with the use of enzyme-inducing ASDs. However, a high dose of folate was associated with an increased risk of cancer in children of mothers with epilepsy. Most ASDs are generally considered safe for breastfeeding and should be encouraged. However, no single ASD is considered ideal for childbearing WWE. Lamotrigine and levetiracetam are relatively more suitable options for this situation.","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Aphasic Status Epilepticus Associated with Alzheimer’s Disease: Clinical and Electrographic Characteristics 与阿尔茨海默病相关的失语性癫痫状态：临床和电图特征

Journal of epilepsy research Pub Date : 2023-12-31 DOI: 10.14581/jer.23009

Hyoung Cheol Lee, Byung-Kun Kim, Kyusik Kang, Woong-Woo Lee, Ilhan Yoo, Yong Soo Kim, Jung-Ju Lee

引用次数: 0

Corrigendum to: Glutathione Increase and Seizure Burden Decrease in Patients with Intractable Epilepsy on Ketogenic Diet. 更正：生酮饮食中难治性癫痫患者谷胱甘肽的增加和癫痫发作负担的减轻。

Journal of epilepsy research Pub Date : 2023-12-31 eCollection Date: 2023-12-01 DOI: 10.14581/jer.23001.e1

Saman Hazany, Brittany DeClouette, Jessica Lowe, Darryl H Hwang, Paul E Kim, Stefan Bluml, Arthur Partikian

引用次数: 0

The Frequency and Precipitating Factors for Breakthrough Seizures in Children with Epilepsy. 儿童癫痫突破性发作的发生频率及诱发因素。

Journal of epilepsy research Pub Date : 2023-06-30 DOI: 10.14581/jer.23003

Abdullah Nasser Aldosari, Ahmed Alghamdi, Ayidh Alharthi, Abdullah Albuhayri, Suhaib Ghurab, Mohammed Alghamdi, Mufleh Aldosari

{"title":"The Frequency and Precipitating Factors for Breakthrough Seizures in Children with Epilepsy.","authors":"Abdullah Nasser Aldosari, Ahmed Alghamdi, Ayidh Alharthi, Abdullah Albuhayri, Suhaib Ghurab, Mohammed Alghamdi, Mufleh Aldosari","doi":"10.14581/jer.23003","DOIUrl":"https://doi.org/10.14581/jer.23003","url":null,"abstract":"Background and purpose: To determine the common precipitating factors for breakthrough seizures in children with epilepsy.Methods: This retrospective study reviewed the charts of children with epilepsy who were followed up in the pediatric neurology clinic of King Fahad Hospital in Al-Baha region, Saudi Arabia, between January 2015 and August 2022. Children between 1 to 14 years of age who had epilepsy, as per the International League Against Epilepsy definition and received anti-seizure medication with a seizure-free period of at least 2 months before breakthrough seizure episode, were included in the study.Results: Of the 108 children included in the study, the mean age was 6.8±1.6 years, and among them (55.5%) were male. Most parents (69.5%) were unaware of the triggering factors of seizure. The majority of patients (88%) reported at least one precipitating factor for breakthrough seizures and the most common one was systemic infection associated with fever (52.8%), and then non-compliance to medications in (34.3%) of the patients. In terms of the electroencephalogram, around 84 patients (77.8%) had abnormal electroencephalogram. Finally, monotherapy was maintained in 63.9% of patients.Conclusions: We conclude that the most common trigger for breakthrough seizure is a systemic infection associated with fever and non-compliance to anti-seizure medications. Increasing the level of awareness by different methods may help limit or even prevent seizures from occurring. Randomized controlled trials could shed light on the adjustment of anti-seizure medications temporarily by increasing the dosage or giving extra doses during the infection to avoid breakthrough seizures.","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b3/a0/jer-23003.PMC10501813.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10360921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Brain Glutathione Increase and Seizure Burden Decrease in Patients with Intractable Epilepsy on Ketogenic Diet. 接受生酮饮食的难治性癫痫患者脑内谷胱甘肽增加，癫痫发作负担减轻。

Journal of epilepsy research Pub Date : 2023-06-30 DOI: 10.14581/jer.23001

Saman Hazany, Brittany DeClouette, Jessica Lowe, Darryl H Hwang, Paul E Kim, Stefan Bluml, Arthur Partikian

{"title":"Brain Glutathione Increase and Seizure Burden Decrease in Patients with Intractable Epilepsy on Ketogenic Diet.","authors":"Saman Hazany, Brittany DeClouette, Jessica Lowe, Darryl H Hwang, Paul E Kim, Stefan Bluml, Arthur Partikian","doi":"10.14581/jer.23001","DOIUrl":"10.14581/jer.23001","url":null,"abstract":"Background and purpose: Ketogenic diet (KD) improves seizure control in patients with drug-resistant epilepsy. As increased mitochondrial levels of glutathione (GSH) might contribute to a change in seizure susceptibility, we quantified changes of absolute GSH levels in the brain by in vivo 1H magnetic resonance spectroscopy (1H MRS) and correlate that with degree of seizure control in patients on KD.Methods: Five cognitively normal adult patients with drug-resistant epilepsy were initially included and 2 completed the study. Each patient was evaluated by a neurologist and registered dietitian at baseline, 1, 3, and 6 months for seizure status and diet adherence after initiation of a modified atkins diet. Multiple metabolites including GSH were quantified using LCModel (version 6.3-1P; Stephen Provencher, Oakville, ON, CA) on a short echo time single-voxel 1H MRS in parieto/occipital grey matter and parietal white matter on a 3 Tesla General Electric magnet prior to starting the ketogenic diet and at 6 months.Results: Both patients (42-years-old male and 35-years-old female) demonstrated marked increases in absolute GSH level in both gray matter (0.12 to 1.40 and 0.10 to 0.70 international unit [IU]) and white matter (0.65 to 1.50 and 0.80 to 2.00 IU), as well as 50% improvements in seizure duration and frequency. Other metabolites including ketone bodies did not demonstrate consistent changes.Conclusions: Markedly increased levels of GSH (7-fold and 14-fold) were observed in longitudinal prospective study of two adult patients with intractable epilepsy with 50% seizure improvement after initiation of ketogenic diets. This pilot study supports the possible anticonvulsant role of GSH in the brain.","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/fe/jer-23001.PMC10501816.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10360920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Alterations in Seizure Frequency in Patients with Epilepsy Following Coronavirus Disease 2019. 2019冠状病毒病后癫痫患者癫痫发作频率的变化

Journal of epilepsy research Pub Date : 2023-06-30 DOI: 10.14581/jer.23002

Negin Seyedhosseinzadeh, Nikoo Saeedi, Anahita Hashemi, Seyed Mehran Homam

{"title":"Alterations in Seizure Frequency in Patients with Epilepsy Following Coronavirus Disease 2019.","authors":"Negin Seyedhosseinzadeh, Nikoo Saeedi, Anahita Hashemi, Seyed Mehran Homam","doi":"10.14581/jer.23002","DOIUrl":"https://doi.org/10.14581/jer.23002","url":null,"abstract":"Background and purpose: During the coronavirus disease 19 (COVID-19) pandemic, a considerable number of studies have focused on the difficulties for accessing the medical services and telemedicine-related issues. However, it is not clear whether COVID-19 affects the clinical course of epilepsy. Therefore, in the current study we aimed to assess the effects of COVID-19 infection on seizure frequency in patients with epilepsy (PWE).Methods: We evaluated PWE who consecutively referred to the neurology clinics of 22 Bahman and Qaem hospitals, who had experienced a recent polymerase chain reaction-confirmed-COVID-19 infection. Data were collected through a pre-defined electronic questionnaire.Results: A total of 104 patients were included. Females represented 52% of the population. The mean age of the patients was 36.73±17.87. Thirty-six patients (34%) reported increased seizure frequency. The mean age of the patients who had exacerbated seizure frequency was significantly lower than the non-exacerbated group (27.50±9.8 vs. 40.14±18.39; p=0.005). The number of the male patients were significantly higher in the exacerbated group (52% vs. 25%; p=0.014). The majority of exacerbated group had a history of drug resistance (44.4% vs. 8.5%; p=0.022). The number of epileptic seizures before COVID-19 infection was higher in the exacerbated (p=0.04).Conclusions: About 34% of PWE experienced exacerbated epileptic seizures after COVID-19 infection. Male patients, young patients, patients with the history of drug resistance, and the patients who had higher seizure frequency were at increased risk for seizure exacerbation. Our results highlight the importance of screening, early diagnosis, and treatment in PWE.","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/80/6a/jer-23002.PMC10501815.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10360924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Patient with Epilepsy Showing Psychiatric Symptoms after Remission of Seizures and Normalization of Electroencephalography: The Phenomenon of Forced Normalization? 癫痫发作缓解和脑电图正常化后出现精神症状的癫痫患者:强迫正常化现象?

Journal of epilepsy research Pub Date : 2023-06-30 DOI: 10.14581/jer.23004

Hyoung Cheol Lee, Byung-Kun Kim, Kyusik Kang, Woong-Woo Lee, Ilhan Yoo, Yong Soo Kim, Jung-Ju Lee

引用次数: 0