Journal of epilepsy research最新文献

{"title":"Irreversible Cerebellar Atrophy as a Complication of Short-Term Phenytoin Exposure: Clinical Improvement Following Discontinuation of the Culprit.","authors":"Hussein Algahtani,&nbsp;Bader Shirah,&nbsp;Abdulrahman J Alqahtani,&nbsp;Adnan Q Al-Malki","doi":"10.14581/jer.20016","DOIUrl":"https://doi.org/10.14581/jer.20016","url":null,"abstract":"<p><p>Phenytoin (diphenylhydantoin) is a widely used antiepileptic drug for controlling both generalized and partial seizures. Reversible cerebellar symptoms, including cerebellar ataxia, have been recognized as an adverse event of phenytoin use for many years. On the other hand, cerebellar degeneration has been reported with chronic use in an epileptic patient treated with this drug. We are reporting an interesting case of phenytoin induced acute pan-cerebellar syndrome with cerebellar atrophy on neuro-imaging that improved many years after discontinuation of the drug. Discontinuation of phenytoin may give a chance for the patient to recover slowly, months after stopping the drug. It is very important for the attending neurologist to educate the patients and their families on some common clinical manifestations suggestive of drug toxicity and perform a regular follow-up and clinical examination at regular intervals.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/88/21/jer-20016.PMC7903046.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25426806","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}

{"title":"Visual Motor and Executive Functioning in Adult Patients with Primary Generalized Epilepsy: A Pilot Study.","authors":"Priyanka Samuel","doi":"10.14581/jer.20010","DOIUrl":"https://doi.org/10.14581/jer.20010","url":null,"abstract":"<p><strong>Background and purpose: </strong>Epilepsy is a neuropsychological disorder which can lead to various cognitive deficits of varying levels. Primary generalized epilepsy is characterized by bilateral ictal electroencephalography patterns and excessive neural activity found in both hemispheres of the brain. There is dearth of research on primary generalized epilepsy in adult population. The present study investigates the visual motor and executive functioning deficits in patients with primary generalized epilepsy.</p><p><strong>Methods: </strong>Study was conducted on 30 participants (n=30) divided into target and normal control group. Target group consisted of patients diagnosed with primary generalized epilepsy with minimum 5 years of illness. Bender-Gestalt test (BGT) and Wisconsin's Card Sorting Test (WCST) was administered on both the groups.</p><p><strong>Results: </strong>A significant difference was found between target group and control group's performances on BGT which indicates that visual motor functioning of control group was better than target group. A significant difference in executive functioning was found in performance of epilepsy patients and non-patients on the domains of WCST.</p><p><strong>Conclusions: </strong>Both executive and visuomotor functioning are significantly affected in patients of primary generalized epilepsy in adult patients.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0e/88/jer-20010.PMC7903041.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25426800","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}

{"title":"Risk of Seizures after Endovascular Management of Ruptured Intracranial Aneurysms: A Systematic Review and Meta-analysis.","authors":"Ezequiel García-Ballestas,&nbsp;William A Florez-Perdomo,&nbsp;Robert M Starke,&nbsp;Andrei Fernandes Joaquim,&nbsp;Amit Agrawal,&nbsp;Ravish Rajiv Keni,&nbsp;Luis-Rafael Moscote-Salazar","doi":"10.14581/jer.20009","DOIUrl":"https://doi.org/10.14581/jer.20009","url":null,"abstract":"<p><p>Seizures in aneurysmal subarachnoid haemorrhage (aSAH) have been described secondary to SAH, changes in cortical function, vasospasm and as a result of treatment effects. Seizures are one of the important clinical determinants in neurological outcome of aSAH. Various studies support the notion of less risk of future seizures in endovascular treatment as compared to the microsurgical clipping, yet there is no conclusive evidence in favour or against the seizure occurrence in aSAH patients after endovascular treatment as compared to the microsurgical treatment. To carry out a systematic review and meta-analysis of the risk of seizures after endovascular management (coiling) of ruptured intracranial aneurysms. A literature search was performed in electronic database of PubMed, MEDLINE, Embase, and Scopus from inception to February 2020, using the terms Seizure, Intracranial aneurysms, embolization, with no constraints applied. Data were pooled using a random-effect model, results were abstracted as odds ratios (ORs) and 95% confidence interval (CI), and heterogeneity was reported as Chi-square. Five studies involving 3,077 patients were included in the meta-analysis. After endovascular management of aSAH, seizure risk was increased by a worse clinical severity (World Federation of Neurosurgery scale or Hunt and Hess) (OR, 3.34; 95% CI, 2.69-4.16; <i>p</i><0.00001), severe vasospasm (OR, 2.20; 95% CI, 1.67-2.92; <i>p</i><0.00001), cerebral infarction (OR, 5.19; 95% CI, 3.23-8.35; <i>p</i><0.00001), and cerebral edema (OR, 1.79; 95% CI, 1.37-2.34; <i>p</i><0.0000). Worse clinical severity, vasospasm, cerebral infarction and cerebral oedema are significant risk factors for the development of seizures after endovascular intervention in aSAH. The mechanism for this correlation is not clear.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ee/c8/jer-20009.PMC7903045.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25435248","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}

{"title":"Juvenile Myoclonic Epilepsy: Myoclonic Status Epilepticus without Coma - Report of Three Cases.","authors":"Jagarlapudi M K Murthy","doi":"10.14581/jer.20015","DOIUrl":"https://doi.org/10.14581/jer.20015","url":null,"abstract":"<p><p>Status epilepticus (SE) is rare in juvenile myoclonic epilepsy (JME). This report presents three patients with myoclonic status epilepticus (MSE). MSE is defined as prolonged period of myoclonic jerks that are correlated with epileptiform discharges on electroencephalogram. The precipitating factors among the three patients were: introduction of carbamazepine in case1, missing the dose in case2, and introduction of oxcarbazepine in case3. Of the three patients, one patient was a misdiagnosed case of JME. In him the diagnosis of JME was established after 35 years when he developed MSE with the addition of oxcarbazepine to the antiseizure medication (ASM) which he was taking. Detailed review of the history revealed that he used to get occasional myoclonic jerks with deprived sleep and stress. This patient illustrates that the diagnosis of JME can be missed or delayed if history of myoclonic jerks is not elicited, particularly in patents with pubertal onset epilepsy. The other lesson is that possibility of JME should be considered in patients with drug resistant epilepsy (pseudo-drug resistance).</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/84/b6/jer-20015.PMC7903047.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25426805","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}

{"title":"Diagnosis and Treatment of Status Epilepticus.","authors":"Sang Kun Lee","doi":"10.14581/jer.20008","DOIUrl":"https://doi.org/10.14581/jer.20008","url":null,"abstract":"<p><p>The definition of status epilepticus (SE) was revised recently in accordance with the various evidences of neuronal injury and changes in clinical settings. Currently, the most acceptable duration of continuous seizure activity is 5 minutes. In 2015, the International League Against Epilepsy Task Force, which was convened to develop a definition and classification of SE, presented a new classification based on four axes: 1) semiology, 2) etiology, 3) electroencephalogram (EEG) correlates, and 4) age. The essential element of nonconvulsive SE (NCSE) is the presence of neurological abnormalities induced by a prolonged epileptic process. The definition of refractory SE involves either clinical or electrographic seizures that persist after adequate doses of an initial benzodiazepine and acceptable second-line antiseizure drugs. The use of EEG is critical in the diagnosis and treatment of NCSE. However, there are a wide range of EEG abnormalities in NCSE. Both the Neurocritical Care Society and the American Epilepsy Society have suggested a paradigm for treating convulsive SE (CSE). The first-line treatment of CSE with benzodiazepine is well-established. The second-line treatment comprises intravenous (IV) doses of fosphenytoin (phenytoin), valproate, phenobarbital, levetiracetam, or midazolam. Although fosphenytoin (phenytoin) and valproate are commonly used in NCSE, the effectiveness of antiepileptic drugs (AEDs) on NCSE has not been well studied. New AEDs such as IV levetiracetam and lacosamide can also be used to treat NCSE with fewer side effects and drug-drug interactions. For refractory SE, general anesthesia with IV midazolam, propofol, pentobarbital, or thiopental could be applied. Use of ketamine, megadose phenobarbital therapy, and multiple combinations of various AEDs including high doses of oral AEDs can also be considered. New-onset refractory status epilepticus (NORSE) and its subcategory, febrile infection-related epilepsy syndrome, involve autoimmune processes. AEDs alone are poorly effective in the treatment of SE in autoimmune encephalitis. Immunotherapy such as steroids, immunoglobulin, rituximab, or tocilizumab can be effective.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f5/35/jer-20008.PMC7903042.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25435247","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}

{"title":"Comparative Efficacy of IV Phenytoin, IV Valproate, and IV Levetiracetam in Childhood Status Epilepticus.","authors":"Mudasir Nazir,&nbsp;Rayees Ahmad Tarray,&nbsp;Ravouf Asimi,&nbsp;Wajid Ali Syed","doi":"10.14581/jer.20011","DOIUrl":"https://doi.org/10.14581/jer.20011","url":null,"abstract":"<p><strong>Background and purpose: </strong>Status epilepticus (SE) is a common pediatric neurological emergency that requires immediate and vigorous management. Currently, phenytoin is the most common agent used in the setting of SE following benzodiazepine for further seizure prevention. Other drugs recently introduced for management of SE are valproic acid and levetiracetam.</p><p><strong>Methods: </strong>This prospective randomized study included 150 pediatric patients admitted as SE. Patients were randomized into three equal groups (50 each) to receive one of the three anticonvulsants in addition to standard treatment. Patients were monitored in hospital regarding their vitals, time to regain consciousness, and seizure recurrence.</p><p><strong>Results: </strong>At 24 hours seizures were controlled in 44 patients (88%) in phenytoin group, 39 patients (78%) in levetiracetam (LEV) group and 46 patients (92%) in valproate (VAL) group (<i>p</i>=0.115). The mean time to regain consciousness in phenytoin, LEV and VAL groups was 122.3±45.4, 120.8±42.8, and 75.0±30.7 minutes (mean±standard deviation) respectively. Patients in VAL group regained consciousness earlier than both phenytoin and LEV group patients (<i>p</i><0.0001). At 3 months follow-up, seven (14.28%) out of 49 patients in phenytoin group, 14 (28.57%) out of 49 in LEV group and two (4%) out of 50 patients in VAL group had a seizure recurrence (<i>p</i>=0.0032).</p><p><strong>Conclusions: </strong>In our study we found that both IV LEV and IV VAL safe and efficacious. The primary outcome, seizure recurrence at 24 hours, did not show a statistically significant difference in three groups (<i>p</i>>0.05). Also, seizure recurrence at 1 week did not reach a statistically significant difference. However, time to regain consciousness and seizure recurrence at 3 months was significantly less in VAL group (<i>p</i><0.05).</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5c/14/jer-20011.PMC7903044.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25426801","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}

{"title":"Molecular Immunohistochemical Profile of Angiocentric Glioma.","authors":"Lanisha D Fuller,&nbsp;Richard A Prayson","doi":"10.14581/jer.20013","DOIUrl":"https://doi.org/10.14581/jer.20013","url":null,"abstract":"<p><strong>Background and purpose: </strong>Angiocentric glioma is a rare, World Health Organization grade I tumor that is seen predominantly in children and young adults and typically presents with seizures. Histologically, it shows features of both infiltrating glioma and ependymoma.</p><p><strong>Methods: </strong>We examined molecular immunohistochemical markers which could help in distinguishing this entity from its differential diagnostic considerations.</p><p><strong>Results: </strong>We retrospectively reviewed the clinicopathologic features of angiocentric gliomas and performed immunohistochemical staining for isocitrate dehydrogenase 1 (IDH-1) (R132H), p53, ATRX, BRAF V600E, Ki-67, and H3 K27M on formalin-fixed, paraffin-embedded tissue. Seven cases in total were found and included six excisional specimens and one biopsy. ATRX staining was retained in all cases. There was no evidence of staining with antibodies to IDH-1 (R132H), H3 K27M, or BRAF V600E. Five tumors showed no staining with antibody to p53 and two tumors showed less than 5% positivity. Ki-67 indices were less than 1% in five tumors, 4-5% in one tumor, and 9-10% in one tumor.</p><p><strong>Conclusions: </strong>In conclusion, the immunohistochemical markers for ATRX, p53, IDH-1 (R132H), BRAF V600E, H3 K27M show wild-type staining, potentially aiding in avoiding misdiagnoses in cases morphologically similar to other low-grade gliomas. Ki-67 labeling indices are low in most tumors.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/11/62/jer-20013.PMC7903049.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25426803","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}

{"title":"Epilepsy Research in Mali: A Pilot Pharmacokinetics Study on First-Line Antiepileptic Drug Treatment.","authors":"Modibo Sangare,&nbsp;Fatoumata Doumbia,&nbsp;Oumar Sidibe,&nbsp;Aboucacar Alassane Oumar,&nbsp;Sekou Bah,&nbsp;Modibo Kouyate,&nbsp;Seidina S Diakite,&nbsp;Karim Traore,&nbsp;Adama Karembe,&nbsp;Mohamed S Haidara,&nbsp;Souleymane P Coulibaly,&nbsp;Souleymane Coulibaly,&nbsp;Arouna Togora,&nbsp;Housseini Dolo,&nbsp;Drissa Traore,&nbsp;Seydou Doumbia,&nbsp;Mahamadou Diakite,&nbsp;Youssoufa Maiga,&nbsp;Amadou Diawara,&nbsp;Callixte Kuate,&nbsp;Hyung-Goo Kim,&nbsp;Gordon A Awandare","doi":"10.14581/jer.20006","DOIUrl":"https://doi.org/10.14581/jer.20006","url":null,"abstract":"<p><strong>Background and purpose: </strong>The indication and benefit of plasma level of antiepileptic (AEDs) has been debating in the monitoring of people living with epilepsy and the epilepsy treatment gap has largely been documented in developed countries. This study was aimed to highlight the epilepsy treatment gap between rural and urban Mali.</p><p><strong>Methods: </strong>We conducted a pilot study on AEDs treatment from September 2016 to May 2019. For 6 months, 120 children and young adults living with epilepsy (rural site, 90; urban site, 30) received phenobarbital, valproic acid and/or carbamazepine. At our rural study site, we determined the AED plasma levels, monitored the frequency, severity and the duration of seizure, and administered monthly the McGill quality of life questionnaire. At our urban study site, each patient underwent an electroencephalogram and brain computed tomography scan without close monitoring.</p><p><strong>Results: </strong>At the rural study site, patients were mostly on monotherapy; AED levels at 1 month (M1) (n=90) and at 3 months (M3) (n=27) after inclusion were normal in 50% at M1 versus 55.6% at M3, low in 42.2% at M1 versus 33.3% at M3 and high in 7.8% at M1 versus 11.1% at M3. AED levels at M1 and at M3 were significantly different <i>p</i><0.0001. By M3, seizures (n=90) were <1/month in 26.7%, and lasted less than 1 minute in 16.7%. After a yearlong follow up, all 90 patients reported a good or excellent quality of life. At our urban study site, patients (n=30) were on carbamazepine and valproid acid in 66.67% and monotherapy (carbamazepine) in 33.33%. By November 2018, only six out 30 patients (on bi-therapy) were still taking their medications.</p><p><strong>Conclusions: </strong>Epilepsy diagnostic and treatment are a real concern in Mali. Our data showed appropriate AED treatment with close follow up resulted in a better quality of life of patients in rural Mali. We will promote the approach of personalized medicine in AED treatment in Mali.</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/6e/c1/jer-20006.PMC7494886.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38425665","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}

{"title":"Artificial Intelligence and Computational Approaches for Epilepsy.","authors":"Sora An,&nbsp;Chaewon Kang,&nbsp;Hyang Woon Lee","doi":"10.14581/jer.20003","DOIUrl":"https://doi.org/10.14581/jer.20003","url":null,"abstract":"<p><p>Studies on treatment of epilepsy have been actively conducted in multiple avenues, but there are limitations in improving its efficacy due to between-subject variability in which treatment outcomes vary from patient to patient. Accordingly, there is a growing interest in precision medicine that provides accurate diagnosis for seizure types and optimal treatment for an individual epilepsy patient. Among these approaches, computational studies making this feasible are rapidly progressing in particular and have been widely applied in epilepsy. These computational studies are being conducted in two main streams: 1) artificial intelligence-based studies implementing computational machines with specific functions, such as automatic diagnosis and prognosis prediction for an individual patient, using machine learning techniques based on large amounts of data obtained from multiple patients and 2) patient-specific modeling-based studies implementing biophysical in-silico platforms to understand pathological mechanisms and derive the optimal treatment for each patient by reproducing the brain network dynamics of the particular patient per se based on individual patient's data. These computational approaches are important as it can integrate multiple types of data acquired from patients and analysis results into a single platform. If these kinds of methods are efficiently operated, it would suggest a novel paradigm for precision medicine.</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/2b/29/jer-20003.PMC7494883.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38426748","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}

{"title":"A Novel Intronic Variant in <i>SLC2A1</i> Gene in a Saudi Patient with Myoclonic Epilepsy.","authors":"Hussein Algahtani,&nbsp;Bader Shirah,&nbsp;Ahmad Albarakaty,&nbsp;Mohammad H Al-Qahtani,&nbsp;Angham Abdulrahman Abdulkareem,&nbsp;Muhammad Imran Naseer","doi":"10.14581/jer.20007","DOIUrl":"https://doi.org/10.14581/jer.20007","url":null,"abstract":"<p><p>Cerebral metabolism is primarily dependent on glucose for which a facilitated diffusion by glucose transporter protein 1 (GLUT1) across the blood-brain barrier is crucial. This GLUT1 is encoded by the <i>SLC2A1</i> gene. Mutations in <i>SLC2A1</i> will lead to a variety of symptoms known as GLUT1 deficiency syndrome. In this article, we report a novel heterozygous intronic variant c.1278+12delC in the <i>SLC2A1</i> gene in a Saudi patient with myoclonic epilepsy. We also report a new clinical phenotype where the patient has pure myoclonic epilepsy with no focal, absence, or atonic seizures and normal developmental and cognitive functions that started in childhood rather than infancy. Our study enriches the mutation-spectrum of the <i>SLC2A1</i> gene and stresses on the importance of whole-exome sequencing in the diagnosis of genetic epilepsies. Early diagnosis and initiation of a ketogenic diet are important goals for the successful management of patients with GLUT1 deficiency syndrome.</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/ca/3b/jer-20007.PMC7494885.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38425666","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}