Epilepsy and Behavior Reports最新文献

The brain-heart connection: Value of concurrent ECG and EEG recordings in epilepsy management 大脑与心脏的联系：同步心电图和脑电图记录在癫痫治疗中的价值

IF 1.8

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100726

Jeremy D. Slater , Selim Benbadis , Richard L. Verrier

{"title":"The brain-heart connection: Value of concurrent ECG and EEG recordings in epilepsy management","authors":"Jeremy D. Slater , Selim Benbadis , Richard L. Verrier","doi":"10.1016/j.ebr.2024.100726","DOIUrl":"10.1016/j.ebr.2024.100726","url":null,"abstract":"<div><div>Concurrent electrocardiogram (ECG) and electroencephalogram (EEG) recording both ictally and interictally has significant value in the comprehensive management of epilepsy. This review highlights the diagnostic utility of simultaneous ECG and EEG monitoring in differentiating between epileptic and cardiac events, detecting cardiac abnormalities, and identifying autonomic dysfunction. The critical role of this combined approach to defining the mechanisms underlying cardiac morbidity and sudden cardiac death in patients with epilepsy and in guiding therapeutic interventions is underscored. The “Epileptic Heart Syndrome” is examined, illustrating how chronic epilepsy can adversely affect cardiac structure and function, leading to increased risk for interictal cardiac arrhythmias, morbidities, and mortality. The findings emphasize the need for standardized protocols for routine concurrent ECG and EEG recording in epilepsy monitoring units both ictally and interictally to ensure comprehensive patient care, improve diagnostic accuracy, and potentially reduce epilepsy-related morbidity and mortality. Future research directions are proposed to address existing gaps and to advance the technology and methodology for concurrent monitoring including wearable and computer-based monitoring systems.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"28 ","pages":"Article 100726"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142663852","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

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection 一名无脑畸形患儿的婴幼儿癫痫痉挛综合征与新发 PAFAH1B1 变异和偶发 CMV 感染有关

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100664

Nga Ying Eng , Duyu A. Nie

{"title":"Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection","authors":"Nga Ying Eng , Duyu A. Nie","doi":"10.1016/j.ebr.2024.100664","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100664","url":null,"abstract":"<div><p>Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations. Here we present a case of a 4-month-old female with new onset infantile epileptic spasms syndrome (IESS) with initial etiology concerned for congenital cytomegalovirus (cCMV) due to a positive urine CMV PCR and maternal viral syndrome during pregnancy. Her brain MRI was significant for type 1 lissencephaly without other radiographical features of cCMV. The patient initially responded to high dose Prednisolone but had relapse of spasms at 9-month-old and required an ACTH course. She later developed generalized tonic seizures and focal impaired awareness seizures. Subsequent whole exome sequencing (WES) trio revealed a <em>de novo PAFAH1B1</em> (c.405G > A, p.W135*) heterozygous nonsense variant which is pathogenic and thus solved the diagnostic puzzle. This case demonstrates that the absence of cCMV stigmata should raise concern for alternative etiology in cases of lissencephaly and the importance of genetic evaluation for subsequent management and family counseling.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100664"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000212/pdfft?md5=1220c6197b604e9809304ee778099735&pid=1-s2.0-S2589986424000212-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140536776","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

Association of oxcarbazepine concentration with seizure frequency in pregnant women with epilepsy 癫痫孕妇体内奥卡西平浓度与癫痫发作频率的关系

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2023.100640

Lin-yan Wei , Zheng-yan-ran Xu , Zhen-zhen Lai , Na Dong , Yi-wen Sang , Yi Guo

{"title":"Association of oxcarbazepine concentration with seizure frequency in pregnant women with epilepsy","authors":"Lin-yan Wei , Zheng-yan-ran Xu , Zhen-zhen Lai , Na Dong , Yi-wen Sang , Yi Guo","doi":"10.1016/j.ebr.2023.100640","DOIUrl":"https://doi.org/10.1016/j.ebr.2023.100640","url":null,"abstract":"<div><p>The management of epilepsy during pregnancy presents particular challenges for neurologists worldwide. Currently, there are no clear recommendations for oxcarbazepine (OXC) specific target concentration during pregnancy. We conducted this retrospective observational cohort study on pregnant women with epilepsy (WWE) who received OXC monotherapy or polytherapy, at the epilepsy outpatient clinic of a tertiary hospital in eastern China. Sixteen pregnancies of 16 WWE were split into the seizure-free group or the non-seizure-free group, according to whether they had been seizure free for more than one year prior to conception or not. There was a significantly decrease in OXC concentration throughout pregnancy, as indicated by the concentration/dose ratio and the ratio of target concentration (RTC). The second trimester of pregnancy was the period when seizure deterioration occurred the most, particularly in the non-seizure-free group. Lower RTC_OXC was identified to be a risk factor for increasing seizure frequency in both the total group and the non-seizure-free group in both univariate and multivariate analysis, with a threshold of 0.575 for differentiating patients at high-risk and low-risk for seizure deterioration. In conclusion, this study suggested an OXC concentration threshold of 0.575 during pregnancy for assisting neurologists in OXC drug monitoring and dose adaptation.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"25 ","pages":"Article 100640"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986423000588/pdfft?md5=387d86b8fb65ba786124714f69496015&pid=1-s2.0-S2589986423000588-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139108100","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

Insights into epileptic aphasia: Intracranial recordings in a child with a left insular ganglioglioma 癫痫性失语的启示：左侧岛叶神经节胶质瘤患儿的颅内记录

IF 1.8

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100715

Mitchell Steinschneider , Ariane E. Rhone , Peter N. Taylor , Kirill V. Nourski , Brian J Dlouhy , Matthew A. Howard III

{"title":"Insights into epileptic aphasia: Intracranial recordings in a child with a left insular ganglioglioma","authors":"Mitchell Steinschneider , Ariane E. Rhone , Peter N. Taylor , Kirill V. Nourski , Brian J Dlouhy , Matthew A. Howard III","doi":"10.1016/j.ebr.2024.100715","DOIUrl":"10.1016/j.ebr.2024.100715","url":null,"abstract":"<div><div>Intracranial EEG was recorded during a dialog-based task in a 16-year-old boy with a left insular ganglioglioma, medically intractable epilepsy, epileptic foci in auditory cortex on the lateral superior temporal gyrus (STG) and language deficiencies. Performance of the task was highly erratic, characterized by rapid cycling between providing correct answers, incorrect answers and failure to respond. There was no relationship between performance and the degree of concurrent epileptic activity in auditory cortex. High gamma activity in core auditory cortex (posterior medial Heschl’s gyrus, HGPM) was markedly diminished during listening and, with two exceptions, was less than activity from 17 control subjects. The two exceptions also had seizure onset zones in perisylvian cortex. Responses during listening were of smaller amplitude than those occurring during speaking, a pattern opposite that typically seen in the left HGPM. Within HGPM, lateral STG and pars opercularis of the inferior frontal gyrus, high gamma activity while listening was greatest when questions were correctly answered and least when the subject failed to respond. Alpha activity preceding utterances was lowest in pars opercularis when the subject failed to respond. Comparisons between resting state activity in another cohort of controls and the subject were most disparate in HGPM. Alpha activity during performance of the task was greatest in the mid-anterior cingulate when the subject failed to respond, suggesting dysfunction beyond the speech network and into the salience network. Multiple abnormalities noted in this patient paralleled those seen in epileptic aphasia and Rolandic epilepsy.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"28 ","pages":"Article 100715"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142427178","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

Ketogenic dietary therapy utilization in Kenya: A qualitative exploration of dietitian’s perceptions 肯尼亚生酮饮食疗法的使用情况：对营养师看法的定性研究

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100661

Pauline Samia , Violet Naanyu , J Helen Cross , Richard Idro , Paul Boon , Jo Wilmshurst , Stanley Luchters

{"title":"Ketogenic dietary therapy utilization in Kenya: A qualitative exploration of dietitian’s perceptions","authors":"Pauline Samia , Violet Naanyu , J Helen Cross , Richard Idro , Paul Boon , Jo Wilmshurst , Stanley Luchters","doi":"10.1016/j.ebr.2024.100661","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100661","url":null,"abstract":"<div><p>This study utilized a qualitative design to explore dietitians’ perceptions regarding Ketogenic Diet Therapy (KDT) for patients with drug-resistant epilepsy in Kenya. Dietitians from Kenya were selected and consented. Audio-recorded interviews were conducted, followed by thematic analysis of verbatim transcripts to identify recurring patterns. The study enrolled 18 dietitians, fourteen of whom correctly described their understanding of KDT for managing drug-resistant epilepsy. There was a lack of confidence in their capacity to initiate the KDT with all expressing the need for further training and facilitation. Only one dietitian reported having initiated and maintained KDT. There was an overall positive view regarding KDT and willingness to implement KDT for patients with drug-resistant epilepsy. Dietitians expressed concerns regarding the availability of national policies, inadequate staffing to support families who require KDT, and the cost of implementing this intervention. Dietitians expressed interest in virtual training to enhance their understanding of KDT. Dietitians in Kenya are mostly aware of KDT utilization for the management of drug-resistant epilepsy. However, they cited poor capability and various barriers to implementation. There is a need for policies to facilitate KDT as a treatment option for the benefit of patients with drug-resistant epilepsy.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100661"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000182/pdfft?md5=80074b66045b0b853da40c30d958bb19&pid=1-s2.0-S2589986424000182-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140187975","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

Predictors of poor neurodevelopmental outcomes in neonates with clinically observed seizures: A prospective observational study in a tertiary care hospital of Bangladesh 临床观察到癫痫发作的新生儿神经发育不良的预测因素：孟加拉国一家三级医院的前瞻性观察研究

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100665

Humayra Akter , Sanjoy Kumer Dey , Mohammad Kamrul Hassan Shabuj , Kanij Fatema , Ismat Jahan , Nazmus Sihan , Tareq Rahman , Md Abdullah Saeed Khan , Mohammad Jahid Hasan

{"title":"Predictors of poor neurodevelopmental outcomes in neonates with clinically observed seizures: A prospective observational study in a tertiary care hospital of Bangladesh","authors":"Humayra Akter , Sanjoy Kumer Dey , Mohammad Kamrul Hassan Shabuj , Kanij Fatema , Ismat Jahan , Nazmus Sihan , Tareq Rahman , Md Abdullah Saeed Khan , Mohammad Jahid Hasan","doi":"10.1016/j.ebr.2024.100665","DOIUrl":"10.1016/j.ebr.2024.100665","url":null,"abstract":"<div><p>Neonatal seizures can lead to long-term neurodevelopmental problems. This study aims to identify predictors of poor developmental outcomes in neonates with seizures to aid in early intervention and referral for follow-up and rehabilitation.</p><p>This observational study was conducted in the Department of Neonatology and Institute of Paediatric Neurodisorder and Autism, Bangabandhu Sheikh Mujib Medical University. Among 75 study cases of neonatal seizure, 23 died, and 46 were followed-up at 6 and 9 months after discharge. EEGs were performed on every patient. A comprehensive neurological examination and developmental evaluation were performed using Bayley Scales of Infant and Toddler Development, Third Edition (Bayley III).</p><p>Three-fourths of neonates were born at term (76.1 %), and over half were male (56.5 %). The majority were appropriate for gestational age (79.7 %) and had an average birth weight of 2607 ± 696 g (±SD). Over half of the neonates (52.2 %) had adverse neurodevelopmental outcomes, with global developmental delay being the most common. Recurrent seizures, the number of anticonvulsants needed to control seizures, and abnormal Electroencephalograms were identified as independent predictors of adverse neurodevelopmental outcomes.</p><p>The study highlights the need for early referral for follow-up and rehabilitation of neonates with seizures having abnormal electroencephalograms, recurrent seizures and requiring more anticonvulsants to control seizures.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100665"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000224/pdfft?md5=da136726b7c173eb6b78b58f1ac62e47&pid=1-s2.0-S2589986424000224-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140773516","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

Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children 中国儿童发育和癫痫脑病相关的复发性KCNH5错义变异p.R327H的临床表型

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100671

Sheng Huang , Chunhui Hu , Min Zhong , Qinrui Li , Yuanyuan Dai , Jiehui Ma , Jiong Qin , Dan Sun

{"title":"Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children","authors":"Sheng Huang , Chunhui Hu , Min Zhong , Qinrui Li , Yuanyuan Dai , Jiehui Ma , Jiong Qin , Dan Sun","doi":"10.1016/j.ebr.2024.100671","DOIUrl":"10.1016/j.ebr.2024.100671","url":null,"abstract":"<div><p><em>KCNH5</em> gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated the clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.R327H) in <em>KCNH5</em> gene. These patients had undergone video EEG to evaluate background features and epileptiform activity, as well as 3.0 T MRI scans for structural analysis and intelligence assessments using the Gesell Developmental Observation or Wechsler Intelligence Scale for Children. Seizure onset occurs between 4 and 10 months of age, with focal and generalized tonic-clonic seizures being common. Initial EEG findings showed multiple multifocal sharp waves, sharp slow waves or spike slow waves, and spike waves. Brain MRI revealed widened extracerebral space in only one patient. Mechanistically, the KCNH5 mutation disrupts the two hydrogen bonds between Arg327 and Asp304 residues, potentially altering the protein’s structural stability and function. Almost 80 % of patients receiving add-on valproic acid (VPA) therapy experienced a reduction in epileptic seizure frequency. Altogether, this study presents the first Chinese cohort of pediatric DEE patients with the KCNH5 p.R327H mutation, highlighting focal seizures as the predominant seizure type and incomplete mutation penetrance. Add-on VPA therapy was likely effective in the early stages of DEE pathogenesis.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100671"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000285/pdfft?md5=2c5c406f38803ca87146ef8fec097f32&pid=1-s2.0-S2589986424000285-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140791142","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

Antiseizure medication adherence and epilepsy surgery attitude in people with epilepsy in Morocco: A cross-sectional study 摩洛哥癫痫患者的抗癫痫药物依从性和癫痫手术态度：横断面研究

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100672

El Bachir Hajji , Boubacar Traore , Samira Hassoune , Salma Bellakhdar , Mohammed Abdoh Rafai , Abdelhakim Lakhdar

{"title":"Antiseizure medication adherence and epilepsy surgery attitude in people with epilepsy in Morocco: A cross-sectional study","authors":"El Bachir Hajji , Boubacar Traore , Samira Hassoune , Salma Bellakhdar , Mohammed Abdoh Rafai , Abdelhakim Lakhdar","doi":"10.1016/j.ebr.2024.100672","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100672","url":null,"abstract":"<div><p>We determine the proportion of non-Antiseizure Medication Adherence (non-AMA) and refusal attitude towards Epilepsy Surgery (ES) and their associated factors in Moroccan People With Epilepsy (PWE). A cross-sectional study was conducted (December 2021-December 2022) among adult Moroccan PWE. PWE were interviewed for their reactions to AMA and the ES attitude. Their medical files were processed to complete their sociodemographic and clinical data. Data were analyzed by the Statistical Package for Social Sciences (SPSS) software 21.0. A Chi-square test was performed to compare variables and multivariate logistic regression was used to highlight associations. Statistical tests were considered significant at a p-value ≤ 0.05 for a Confidence Interval (CI) of 95 %. The median age of our sample (n = 294) was 38 years (IQR: 25.00–55.00). Non-AMA was noted in 24.5 % with indifference as the main reason (55.6 %). ES refusal was found in 33.3 %, attributed mostly to apprehension (61.2 %). In the multivariate analysis, male sex (aOR = 1.94; 95 %CI: 1.03–3.64) and the existence of a family history of epilepsy (aOR = 1.96; 95 %CI: 1.02–3.75) were the factors associated with the non-AMA, whereas the use of allopathic treatments (aOR = 2.32; 95 %CI: 1.20–4.51), exclusively focal or generalized (not combined) seizures (aOR = 2.66; 95 %CI: 1.36–5.21) and the combination of a generic with the originator ASM (aOR = 2.64; 95 %CI: 1.12–6.18) were the predictive factors with the ES refusal attitude. The proportions found of non-AMA and ES refusal were relatively low compared to other studies, which may indicate the effort that medical staff have devoted recently to raising awareness of the importance of PWE’s therapeutic involvement.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"26 ","pages":"Article 100672"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000297/pdfft?md5=890b5d9946867f335943ef34e918a390&pid=1-s2.0-S2589986424000297-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140901437","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

An exploration of anomia rehabilitation in drug-resistant temporal lobe epilepsy 耐药性颞叶癫痫的失神康复探索

IF 1.5

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100681

Véronique Sabadell , Agnès Trébuchon , F.-Xavier Alario

{"title":"An exploration of anomia rehabilitation in drug-resistant temporal lobe epilepsy","authors":"Véronique Sabadell , Agnès Trébuchon , F.-Xavier Alario","doi":"10.1016/j.ebr.2024.100681","DOIUrl":"https://doi.org/10.1016/j.ebr.2024.100681","url":null,"abstract":"<div><p>Around 40% of patients who undergo a left temporal lobe epilepsy (LTLE) surgery suffer from anomia (word-finding difficulties), a condition that negatively impacts quality of life. Despite these observations, language rehabilitation is still understudied in LTLE. We assessed the effect of a four-week rehabilitation on four drug-resistant LTLE patients after their surgery. The anomia rehabilitation was based on cognitive descriptions of word finding deficits in LTLE. Its primary ingredients were psycholinguistic tasks and a psychoeducation approach to help patients cope with daily communication issues. We repeatedly assessed naming skills for trained and untrained words, before and during the therapy using an A-B design with follow-up and replication. Subjective anomia complaint and standardized language assessments were also collected. We demonstrated the effectiveness of the rehabilitation program for trained words despite the persistence of seizures. Furthermore, encouraging results were observed for untrained items. Variable changes in anomia complaint were observed. One patient who conducted the protocol as self-rehabilitation responded similarly to the others, despite the different manner of intervention. These results open promising avenues for helping epileptic patients suffering from anomia. For example, this post-operative program could easily be adapted to be conducted preoperatively.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"27 ","pages":"Article 100681"},"PeriodicalIF":1.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000388/pdfft?md5=a48cfd37ac7c5b7aab47e4d6a4ed09cd&pid=1-s2.0-S2589986424000388-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141243118","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

Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review 伴有小脑萎缩和癫痫发作的神经发育障碍的新型 BRAT1 变异：病例报告和文献综述

IF 1.8

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI: 10.1016/j.ebr.2024.100702

Mohammad-Reza Ghasemi , Sahand Tehrani Fateh , Farzad Hashemi-Gorji , Morteza Sheikhi Nooshabadi , Sahar Alijanpour , Ali Mardi , Mohammad Miryounesi

{"title":"Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review","authors":"Mohammad-Reza Ghasemi , Sahand Tehrani Fateh , Farzad Hashemi-Gorji , Morteza Sheikhi Nooshabadi , Sahar Alijanpour , Ali Mardi , Mohammad Miryounesi","doi":"10.1016/j.ebr.2024.100702","DOIUrl":"10.1016/j.ebr.2024.100702","url":null,"abstract":"<div><p>The <em>BRAT1</em> gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of <em>BRAT1</em>-related disorders is highlighted, emphasizing the importance of considering this condition in the differential diagnosis of neurodevelopmental disorders. This study aimed to identify a causative variant in an Iranian patient affected by developmental delay, speech delay, seizure, and clubfoot through whole exome sequencing (WES) followed by Sanger sequencing. The WES revealed a novel biallelic variant of the <em>BRAT1</em>, c.398A>G (p.His133Arg), in the patient, which segregated within the family. A literature review suggests that the phenotypic variability associated with <em>BRAT1</em> mutations is likely due to multiple factors, including the location and type of mutation, the specific functions of the protein, and the influence of other genetic and environmental factors. The phenotypic variability of <em>BRAT1-</em>related disorders underscores the importance of considering <em>BRAT1</em>-related disorders in the differential diagnosis of epileptic encephalopathy with rigidity. These findings provide important insights into the role of <em>BRAT1</em> in neurodevelopmental disorders and highlight the potential clinical implications of identifying and characterizing novel variants in this gene.</p></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"27 ","pages":"Article 100702"},"PeriodicalIF":1.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2589986424000595/pdfft?md5=4d215f696a061ea3cfa6bcd70f85d1ef&pid=1-s2.0-S2589986424000595-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141961557","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