Journal of epilepsy research最新文献

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The Dilemma of Choroidal Fissure Cyst and Seizure. 脉络膜裂囊肿与癫痫的困境。
Journal of epilepsy research Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20001
Tariq Al-Saadi
{"title":"The Dilemma of Choroidal Fissure Cyst and Seizure.","authors":"Tariq Al-Saadi","doi":"10.14581/jer.20001","DOIUrl":"https://doi.org/10.14581/jer.20001","url":null,"abstract":"which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Editorial Journal of Epilepsy Research pISSN 2233-6249 / eISSN 2233-6257 The Dilemma of Choroidal Fissure Cyst and Seizure Tariq Al-Saadi, MD Department of Neurology & Neurosurgery, Faculty of Medicine, McGill University, Montreal, Canada; Department of Neurosurgery, Khoula Hospital, Muscat, Sultanate of Oman","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/07/f7/jer-20001.PMC7494884.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38426746","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: 1
Epilepsy in Children with Tuberous Sclerosis Complex: A Prospective Observational Study in Bangladesh. 患有结节性硬化症的儿童癫痫:孟加拉国的一项前瞻性观察研究。
Journal of epilepsy research Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20004
Md Mizanur Rahman, Kanij Fatema
{"title":"Epilepsy in Children with Tuberous Sclerosis Complex: A Prospective Observational Study in Bangladesh.","authors":"Md Mizanur Rahman,&nbsp;Kanij Fatema","doi":"10.14581/jer.20004","DOIUrl":"https://doi.org/10.14581/jer.20004","url":null,"abstract":"<p><strong>Background and purpose: </strong>Epilepsy is an important neurologic feature of patients with tuberous sclerosis complex (TSC). Most common seizure types are focal seizure and epileptic spasm. Seizure control often requires multiple antiepileptic drugs. This study has been done to evaluate the seizure types, electro-encephalography (EEG), neuroimaging features, and drug treatment of epilepsy in TSC.</p><p><strong>Methods: </strong>This prospective observational study has been conducted on epilepsy patients with TSC at Bangabandhu Sheikh Mujib Medical University from 2011 to 2019.</p><p><strong>Results: </strong>Seventy patients with a mean±standard deviation age of 5.64±3.96 years were identified and 57.1% were female. Most common type of seizure was focal seizure (46%). Epileptic spasm occurred in 17% of patients and all of them had seizure onset before 1 year. In 47% of patients EEG showed focal epileptic discharge; hypsarrhythmia was found in most of the patients with epileptic spasm. Majority of the patients needed more than one drug to control seizure. Only 34% of patients were seizure free for at least 12 months and 22.8% had drug resistant epilepsy.</p><p><strong>Conclusions: </strong>This study highlights the pattern of seizure, treatment pattern, response to drug, and short-time outcome of children with TSC with epilepsy in a developing country like Bangladesh.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f2/3d/jer-20004.PMC7494887.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38426749","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: 3
Burden and Its Predictors among Caregivers of Patient with Epilepsy. 癫痫患者护理人员负担及其预测因素。
Journal of epilepsy research Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20005
Rita Pokharel, Prakash Poudel, Sami Lama, Kriti Thapa, Rambha Sigdel, Erina Shrestha
{"title":"Burden and Its Predictors among Caregivers of Patient with Epilepsy.","authors":"Rita Pokharel,&nbsp;Prakash Poudel,&nbsp;Sami Lama,&nbsp;Kriti Thapa,&nbsp;Rambha Sigdel,&nbsp;Erina Shrestha","doi":"10.14581/jer.20005","DOIUrl":"https://doi.org/10.14581/jer.20005","url":null,"abstract":"<p><strong>Background and purpose: </strong>Epilepsy is a chronic unpredictable debilitating condition. Epilepsy has great impacts not only on patients with epilepsies but also the persons around them. Burden among caregivers is understudied area. In view of the dearth of literature or studies focused on caregivers of children with epilepsy in Nepalese context, this study is expected to assess burden and its predictors among caregivers of children with epilepsy.</p><p><strong>Methods: </strong>A total of 106 caregivers were interviewed using purposive sampling technique. The Zarit Burden Interview Scale short version was used to assess burden and Hospital Anxiety Depression Scale was used to assess anxiety and depression. Data were analysed using SPSS ver. 16.0. Chi-square test, multinomial logistic regression and linear regression analysis were done for analysis of inferential statistics to find out the predictors of burden.</p><p><strong>Results: </strong>Majority of the caregivers (71.7%) were females and 64.2% of caregivers were mothers of children. Majority of responders (77.4%) were Hindus. Mild to moderate burden was found in 27.4% and high burden was found in 14.2% of the caregivers. Borderline anxiety, borderline depression, anxiety and depression were present in 7.5%, 8.5%, 6.6%, and 6.6% caregivers respectively. Burden was significantly higher in caregivers of epileptic children with poorly controlled seizure (<i>p</i>=0.003) and with co-morbidities (<i>p</i>=0.009). Similarly, burden score had significant positive correlation (<i>p</i>=0.001) with depression and significant negative correlation (<i>p</i>=0.005) with age of onset of epilepsy in children.</p><p><strong>Conclusions: </strong>Burden, anxiety and depression are common problems in caregivers of children with epilepsy. Poorly controlled seizure, presence of associated comorbidities, younger age of onset of seizure in children and presence of depression in caregivers are the important factors that predict burden among caregivers of children with epilepsy.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/89/a5/jer-20005.PMC7494882.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38425664","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: 17
Seizures and Epilepsy in Times of Corona Virus Disease 2019 Pandemic. 2019冠状病毒病大流行时期的癫痫发作和癫痫。
Journal of epilepsy research Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20002
Jasmine Parihar, Manjari Tripathi, Rajinder K Dhamija
{"title":"Seizures and Epilepsy in Times of Corona Virus Disease 2019 Pandemic.","authors":"Jasmine Parihar,&nbsp;Manjari Tripathi,&nbsp;Rajinder K Dhamija","doi":"10.14581/jer.20002","DOIUrl":"https://doi.org/10.14581/jer.20002","url":null,"abstract":"<p><p>The end of the year 2019 was marked by novel coronavirus (severe acute respiratory syndrome coronavirus-2, SARS-CoV-2) outbreak in China that rapidly spread to the rest of the world. While the involvement of the lower respiratory system causing pneumonia is identified as the primary target of the virus, extra-pulmonary manifestations, especially of the central nervous system, are also being increasingly reported. Previous research on Middle East respiratory syndrome coronavirus and SARS-CoV have shown neurological involvement in human coronavirus infections. While several cases of seizures have been reported in patients with coronavirus disease 2019 (COVID-19) patients, there is no specific data to suggest an association of COVID-19 with epilepsy. Epilepsy patients on immunosuppressive medications may have a higher risk of contracting the viral infection. There can be an indirect relation of COVID-19 to epilepsy as the viral infection is associated with fever in most COVID-19 cases, which can lower seizure threshold. Additionally, inadequate sleep and stress due to ongoing pandemic of coronavirus can be another trigger for seizure precipitation in epilepsy patients. Drug compliance, availability of antiepileptic drugs, and drug interactions with COVID-19 experimental drugs are major concerns in epilepsy patients. Adopting telemedicine services and the use of epilepsy helplines may be important in assisting epilepsy patients and ensuring that treatment continues uninterrupted.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b3/9d/jer-20002.PMC7494888.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38426747","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: 7
Eating Epilepsy in North India: Case Series and Its Management. 印度北部食性癫痫:病例系列及其管理。
Journal of epilepsy research Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19019
Pankaj Singh, Atma Ram Bansal, Aniruddha More, Susant Bhuyan, Arun Garg
{"title":"Eating Epilepsy in North India: Case Series and Its Management.","authors":"Pankaj Singh,&nbsp;Atma Ram Bansal,&nbsp;Aniruddha More,&nbsp;Susant Bhuyan,&nbsp;Arun Garg","doi":"10.14581/jer.19019","DOIUrl":"https://doi.org/10.14581/jer.19019","url":null,"abstract":"<p><p>Eating epilepsy is a rare form of reflex epilepsy where seizures are triggered by eating. We describe a case series of 12 such patients presenting to our epilepsy clinic based in North India. Eating epilepsy was noted to have male predominance with focal seizures with impaired awareness. Most of these patients had either temporal or perisylvian localization. Clobazam taken half an hour before meal was found to be an effective add-on therapy in its management.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/96/f8/jer-19019.PMC7251346.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019991","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: 4
Parry-Romberg Syndrome and Temporal Lobe Refractory Epilepsy: Case Report. Parry-Romberg综合征和颞叶难治性癫痫:1例报告。
Journal of epilepsy research Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19020
A Velandia-Martínez, M A Ortega-Sanchez, S O Martínez-Perez, I Peña, O Pradilla, R Gomez, A Martínez-Perez
{"title":"Parry-Romberg Syndrome and Temporal Lobe Refractory Epilepsy: Case Report.","authors":"A Velandia-Martínez,&nbsp;M A Ortega-Sanchez,&nbsp;S O Martínez-Perez,&nbsp;I Peña,&nbsp;O Pradilla,&nbsp;R Gomez,&nbsp;A Martínez-Perez","doi":"10.14581/jer.19020","DOIUrl":"https://doi.org/10.14581/jer.19020","url":null,"abstract":"<p><p>The Parry-Romberg syndrome (PRS), also known as hemifacial atrophy, is a rare neurocutaneous disease with the prevalence of 1/700,000 cases. It is more common in women than men, with an early onset of disease usually within the first two decades of life. Even though the etiology of PRS is unknown, it is thought to be a multifactorial disease that involves hereditary, posttraumatic, autoimmune, infectious, and neoplastic factors. There are a variety of systemic manifestations described in PRS including neurological conditions that range from intractable headache to refractory epilepsy. The manifestations must be identified in a timely manner to ensure an early therapeutic intervention, considering that an appropriate approach during the initial phase might halt the disease progression and markedly improve the quality of life in these patients. This article is aimed to describe the case of a 23 years old female with left hemifacial atrophy and dermatologic, dental, and neurologic compromise, associated with refractory temporal lobe epilepsy evidenced in neuroimaging and electrodiagnostic testings.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4d/4b/jer-19020.PMC7251345.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019992","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: 2
Surgical Prognostic Value of Epileptic Aura Based on History and Electrical Stimulation. 基于病史和电刺激的癫痫先兆的手术预后价值。
Journal of epilepsy research Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19013
Hye-Jin Moon, Chun Kee Chung, Sang Kun Lee
{"title":"Surgical Prognostic Value of Epileptic Aura Based on History and Electrical Stimulation.","authors":"Hye-Jin Moon,&nbsp;Chun Kee Chung,&nbsp;Sang Kun Lee","doi":"10.14581/jer.19013","DOIUrl":"https://doi.org/10.14581/jer.19013","url":null,"abstract":"<p><strong>Background and purpose: </strong>We attempted to evaluate the surgical prognostic value of various types of aura in conjunction with the results of other presurgical evaluations in patients with an intracranial ictal onset zone confirmed by invasive studies and focal resection. We also attempted to determine how often the habitual auras could be elicited and to demonstrate the prognostic value of these stimulation-induced auras (SIAs).</p><p><strong>Methods: </strong>We reviewed retrospectively the records of patients who had undergone intracranial electroencephalography evaluation and focal resective surgery for intractable partial epilepsy between 1995 and 2009. We identified the localizing value and prognostic value of the patients' auras. We correlated the resection of the area with SIA and surgical outcome.</p><p><strong>Results: </strong>Aura was reported in 225 out of 300 patients. Patients with medial temporal lobe epilepsy (TLE) or occipital lobe epilepsy had a higher chance of having aura. The presence of aura, medial TLE, hippocampal sclerosis on pathology, focal lesions on magnetic resonance imaging (MRI), and ipsilateral abnormality on fluorodeoxyglucose-positron emission tomography were significantly correlated with seizure-free outcome. The presence of auditory aura, parietal lobe epilepsy, multifocal epilepsy, and dual pathology was associated with poor outcomes. Multivariate analysis revealed that auditory aura, multifocal epilepsy, hippocampal sclerosis, and lesion on MRI were prognostic factors for intractable partial epilepsy. SIA was observed in 29 out of the 134 patients who had habitual aura on history. The degree of complete resection of the area with SIA was not related to seizure-free outcome.</p><p><strong>Conclusions: </strong>The presence of aura favors good surgical outcome and certain types of aura, such as auditory aura, have poor prognostic value. SIA, which was encountered in 21.6% of patients, was not related to seizure-free outcome.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b3/a5/jer-19013.PMC7251338.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019985","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: 5
Clinical Relevance of Interictal Spikes in Tumor-Related Epilepsy: An Electrocorticographic Study. 肿瘤相关性癫痫发作间峰的临床相关性:一项皮质电图研究。
Journal of epilepsy research Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19015
Changik Lee, Woorim Jeong, Chun Kee Chung
{"title":"Clinical Relevance of Interictal Spikes in Tumor-Related Epilepsy: An Electrocorticographic Study.","authors":"Changik Lee,&nbsp;Woorim Jeong,&nbsp;Chun Kee Chung","doi":"10.14581/jer.19015","DOIUrl":"https://doi.org/10.14581/jer.19015","url":null,"abstract":"<p><strong>Background and purpose: </strong>Although some surgeons utilize interictal spikes recorded via electrocorticography (ECoG) when planning extensive peritumoral resection in patients with tumor-related epilepsy, the association between interictal spikes and epileptogenesis has not been fully described. We investigated whether the resection of interictal spikes recorded by ECoG is associated with more favorable surgical outcomes in tumor-related epilepsy.</p><p><strong>Methods: </strong>Of 132 patients who underwent epilepsy surgery for tumor-related epilepsy from 2006 to 2013, seven patients who underwent extraoperative ECoG were included in this study. In each patient, ECoG interictal spike sources were localized using standardized low-resolution brain electromagnetic tomography and were co-registered into a reconstructed brain model. Correspondence to the resection volume was estimated by calculating the percentage of interictal spike sources in the resection volume.</p><p><strong>Results: </strong>All patients achieved gross total resection without oncological recurrence. Five patients achieved favorable surgical outcomes, whereas the surgical outcomes of two patients were unfavorable. Correspondence rates to the resection volume in the favorable and unfavorable surgical outcome groups were 44.6%±27.8% and 43.5%±22.8%, respectively (<i>p</i>=0.96). All patients had interictal spike source clusters outside the resection volume regardless of seizure outcome.</p><p><strong>Conclusions: </strong>In these cases of tumor-related epilepsy, the extent of the resection of ECoG interictal spikes was not associated with postoperative seizure outcomes. Furthermore, the presence of interictal spike sources outside of the resection area was not related to seizure outcomes. Instead, concentrating more on the complete removal of the brain tumor appears to be a rational approach.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/89/32/jer-19015.PMC7251339.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019987","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: 3
Antiepileptic Drugs Usage in Pregnant Women with Epilepsy in Saudi Arabia. 沙特阿拉伯孕妇癫痫患者抗癫痫药物的使用。
Journal of epilepsy research Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19014
Hussein Algahtani, Bader Shirah, Faisal Alkahtani, Khalid Alrefaei, Abdulrahman Alamri, Ahmed Aldarmahi
{"title":"Antiepileptic Drugs Usage in Pregnant Women with Epilepsy in Saudi Arabia.","authors":"Hussein Algahtani,&nbsp;Bader Shirah,&nbsp;Faisal Alkahtani,&nbsp;Khalid Alrefaei,&nbsp;Abdulrahman Alamri,&nbsp;Ahmed Aldarmahi","doi":"10.14581/jer.19014","DOIUrl":"https://doi.org/10.14581/jer.19014","url":null,"abstract":"<p><strong>Background and purpose: </strong>Epilepsy is one of the most common neurological disorders requiring continuous treatment during pregnancy. In Saudi Arabia, there is only one publication that studied the outcome of pregnancies in women with epilepsy, published in 1999. The aim of the study is to determine the major congenital malformations in infants resulting from exposure to antiepileptic drugs in pregnant women with epilepsy.</p><p><strong>Methods: </strong>This is a retrospective observational study that was conducted at King Abdulaziz Medical City, Jeddah, Saudi Arabia, involving pregnant women with epilepsy using antiepileptic drugs during pregnancy. We also studied babies born to those mothers. The study period was 5 years from 2014 to 2018.</p><p><strong>Results: </strong>Six hundred babies were included in the study, born to 154 mothers with epilepsy using antiepileptic drugs during pregnancy. In addition, there were 111 losses of fetuses before 20 weeks of gestation. The only malformation detected was a ventricular septal defect in one child, whose mother was using polytherapy (valproic acid and levetiracetam). Three babies were born with epilepsy, and four babies had other associated disorders (Down syndrome, osteoporosis, esotropia, and hearing impairment).</p><p><strong>Conclusions: </strong>The results of this small study are an urgent call for the establishment of congenital malformations registry in Saudi Arabia. In addition, specialized epilepsy clinics utilizing multidisciplinary care are highly recommended. A specific group of interest for such clinics are married women, who have epilepsy and are using antiepileptic drugs since planning of pregnancy is not part of the culture in Saudi Arabia.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/17/4f/jer-19014.PMC7251344.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019988","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: 1
SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases. 小儿癫痫性脑病SCN8A突变:附2例报告
Journal of epilepsy research Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19017
Kanij Fatema, Md Mizanur Rahman, Omar Faruk
{"title":"<i>SCN8A</i> Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases.","authors":"Kanij Fatema,&nbsp;Md Mizanur Rahman,&nbsp;Omar Faruk","doi":"10.14581/jer.19017","DOIUrl":"https://doi.org/10.14581/jer.19017","url":null,"abstract":"<p><p>Early infantile epileptic encephalopathy type 13 is a severe form of epilepsy caused by mutations in the sodium channel 8 alpha (SCN8A) gene. This gene encodes the neuronal voltage-gated sodium channel which plays vital role in neuronal excitability. Here we present two cases with SCN8A encephalopathy. Both cases had mutation in p.Arg1872Gin the SCN8A gene, which was detected by targeted next generation sequencing. Case 1 was a 14-month old boy, who had a normal birth history with normal development up to 6 months and then developed repeated generalized seizure, which was nonresponsive to multiple antiepileptic drugs. He also had neuroregression and dystonia. His electroencephalogram (EEG) showed progressive background abnormality with burst suppression pattern. His metabolic panel was normal and had partial response to carbamazepine. The second case was for an 11-month old boy with the onset of seizure at the age of 7 months. Seizure was generalized, resistant to multiple antiepileptic drugs. He had developmental delay from beginning, no movement disorder. EEG showed focal discharge from left temporal and occipital region. He showed partial response to oxcarbazepine. Our cases had similarities with the previously reported cases. The detailed discussion of our cases would contribute to early detection and targeted treatment of SCN8A encephalopathy. This also gives special emphasis on a genetic test in infants with intractable epilepsy, movement disorder and developmental delay.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f5/42/jer-19017.PMC7251340.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019990","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: 1
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