{"title":"A Rare Case of 3:1 Alpha Variant.","authors":"Seolah Lee, Sang Kun Lee","doi":"10.14581/jer.21024","DOIUrl":"https://doi.org/10.14581/jer.21024","url":null,"abstract":"<p><p>Since the first documentation of slow alpha variants in Goodwin et al., there has been a single case report with an actual electroencephalography (EEG). However, any further case has not been reported since then, and neurologists are still unfamiliar with its presence due to its scarcity. Here, we present a rare case of 3:1 subharmonic alpha variant in a hope to acquaint EEG interpretations and speculate upon its benign nature.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"154-155"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8f/b2/jer-21024.PMC8767220.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39728232","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}
Shinu Singla, Ravindra K Garg, Rajesh Verma, Hardeep S Malhotra, Imran Rizvi, Neeraj Kumar, Ravi Uniyal, Shweta Pandey, Anit Parihar, Praveen Sharma
{"title":"Predictors of Seizure Recurrence in Solitary Calcified Neurocysticercosis in Relation to Computed Tomography Scan: Prospective Observational Study.","authors":"Shinu Singla, Ravindra K Garg, Rajesh Verma, Hardeep S Malhotra, Imran Rizvi, Neeraj Kumar, Ravi Uniyal, Shweta Pandey, Anit Parihar, Praveen Sharma","doi":"10.14581/jer.21018","DOIUrl":"https://doi.org/10.14581/jer.21018","url":null,"abstract":"<p><strong>Background and purpose: </strong>Solitary calcified neurocysticercosis (NCC) on the computed tomography (CT) scan of brain in patients of epilepsy is common finding in endemic regions. Factors causing seizures in such cases are debatable. Immature calcification may be the causative factor for seizure recurrence. Thus, we aimed to study predictors of seizure recurrence specific to morphological characteristics on CT scan.</p><p><strong>Methods: </strong>Patients with solitary calcified NCC on CT scan brain and active seizures were prospectively included. The protocol included clinical evaluation, contrast-enhanced CT scan of the brain, and electroencephalogram (EEG) at baseline and 9th month of 1-year follow-up in all patients. Seizure recurrence after 1 week of enrolment was recorded.</p><p><strong>Results: </strong>One hundred twenty patients with a mean age of 23.33±12.81 years were included with a final follow-up of 109 patients and 35 patients had seizure recurrence. On univariate analysis, seizure frequency of more than 1 episode/month (45.7% vs. 25.7%, <i>p</i>=0.037; odds ratio [OR], 2.06; 95% confidence interval [CI], 1.05-5.68), perilesional edema on CT head (45% vs. 10.8%, <i>p</i><0.001; OR, 6.95; 95% CI, 2.58-18.7), lower density (HU) of lesion on CT head (139.85±76.54 vs. 204.67±135.9 HU <i>p</i>=0.009) and abnormal EEG at presentation (<i>p</i><0.001; OR, 18.25; 95% CI, 2.15-155.13) were significantly associated with seizure recurrence. On multivariate analysis, presence of perilesional edema on CT head (<i>p</i>=0.001; OR, 6.854; 95% CI, 2.26-20.77), density of lesion on CT (HU) (<i>p</i>=0.036; OR, 0.995; 95% CI, 0.99-1) and abnormal EEG (<i>p</i>=0.029; OR, 12.125; 95% CI, 1.29-113.74) were independently associated with seizure recurrence.</p><p><strong>Conclusions: </strong>The presence of perilesional edema, HU of calcification on CT brain, and abnormal EEG suggest an increased risk of seizure recurrence in patients of epilepsy with solitary calcified NCC.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"120-126"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/93/26/jer-21018.PMC8767223.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39866857","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}
Kanij Fatema, Mizanur Rahman, Mohammad Monir Hossain, Shaheen Akhter, Dewan Afsana Shomee, Sohela Akhter, Mazharul Mannan
{"title":"Pulse Methylprednisolone with Oral Prednisolone versus Adrenocorticotropic Hormone in Children with West Syndrome: a Randomized Controlled Trial.","authors":"Kanij Fatema, Mizanur Rahman, Mohammad Monir Hossain, Shaheen Akhter, Dewan Afsana Shomee, Sohela Akhter, Mazharul Mannan","doi":"10.14581/jer.21020","DOIUrl":"10.14581/jer.21020","url":null,"abstract":"<p><strong>Background and purpose: </strong>West syndrome is an epileptic encephalopathy of infancy. According to guidelines, adrenocorticotrophic hormone (ACTH) is probably effective for the short-term management of infantile spasm, but there is little uniformity in treatment due to variable response. This study has been done to evaluate the efficacy of pulse methylprednisolone as compared to ACTH in children with West syndrome.</p><p><strong>Methods: </strong>Children between 3 months to 24 months with the diagnosis of West syndrome were included and ACTH and pulse methyl prednisolone followed by oral prednisolone were given after randomization. Total duration of treatment was 6 weeks in both groups.</p><p><strong>Results: </strong>Total 87 children were enrolled; 12 patients lost in follow up. Finally, 43 received ACTH and 32 received pulse methylprednisolone. In pulse methylprednisolone group, 28.13% showed 50-80% response, 28.13% showed 80-99% response and 21.87% patients showed 100% response. In ACTH group, 41.86% showed 50-80% response, 25.58% showed 80-99% response and only 3 (6.97%) patients showed 100% response. Methylprednisolone treatment regimen did not cause significant or persistent adverse effects.</p><p><strong>Conclusions: </strong>Pulse methylprednisolone followed by oral prednisolone for 6 weeks is as effective as ACTH. Thus, methylprednisolone therapy can be an important alternative to ACTH.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"136-141"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/00/jer-21020.PMC8767225.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39866858","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":"Early Combination Therapy of Ketamine and Midazolam in Patients with Refractory Status Epilepticus in Hemodynamic Unstable State.","authors":"Jung-Won Choi, Jung-Won Shin","doi":"10.14581/jer.21023","DOIUrl":"https://doi.org/10.14581/jer.21023","url":null,"abstract":"<p><p>The use of anesthetics is inevitable to suppress seizure activity in refractory status epilepticus (RSE). Hypotension, which is a critical side effect observed when treating RSE using a higher dosage of anesthetics that enhance γ-aminobutyric acid (GABA) activity, often requires vasopressor agents. Concomitant treatment with N-methyl-D-aspartate (NMDA) receptor antagonists, such as ketamine, could be effective in prolonged refractory SE, while maintaining stable blood pressure owing to the blockage of catecholamine reuptake in the systemic circulation. We report two cases of patients who had RSE with hemodynamic instability treated promptly with an early combination of ketamine and low-dose midazolam. The combination treatment effectively suppressed epileptic discharge with less hemodynamic side effects; moreover, a low dose of midazolam was required when combined with ketamine therapy. The initial combination of a third-line therapy that blocks NMDA receptors with enhanced GABAergic activity could be useful in RSE. Further studies are necessary in many variable etiologies of SE.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"150-153"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/96/e9/jer-21023.PMC8767219.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39728231","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}
Young Jun Ko, Il Han Yoo, Jiwon Lee, Jeehun Lee, Mi-Sun Yum, Tae-Sung Ko, Hunmin Kim, Hee Hwang, Soo Yeon Kim, Jong-Hee Chae, Ji-Eun Choi, Ki Joong Kim, Byung Chan Lim
{"title":"The Role of Focal Epilepsy Features in Defining <i>SCN1A</i> Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.","authors":"Young Jun Ko, Il Han Yoo, Jiwon Lee, Jeehun Lee, Mi-Sun Yum, Tae-Sung Ko, Hunmin Kim, Hee Hwang, Soo Yeon Kim, Jong-Hee Chae, Ji-Eun Choi, Ki Joong Kim, Byung Chan Lim","doi":"10.14581/jer.21019","DOIUrl":"https://doi.org/10.14581/jer.21019","url":null,"abstract":"<p><strong>Background and purpose: </strong>This study was aimed to describe focal epilepsy features of <i>SCN1A</i> mutation-positive Dravet syndrome patients.</p><p><strong>Methods: </strong>A total of 82 <i>SCN1A</i> mutation-positive patients were reviewed retrospectively (39 boys and 43 girls). Seizure type and electroencephalography (EEG) findings were investigated according to the stage, disease onset, and steady state (after age 2 years). Long-term video EEG data were used to classify the seizure type.</p><p><strong>Results: </strong>Focal seizures at onset and the steady state were found in 54.9% (45/82) and 90% (63/70) of patients, respectively. Afebrile focal seizures were an initial seizure in about one fourth of the patients (22/82, 26.8%). Of 48 seizures captured during long-term video EEG monitoring of 30 patients, 19 seizures were classified as focal onset (39.6%). Of the 19 focal seizures, 12 were either focal motor or focal non-motor seizures, and seven were focal onset bilateral tonic-clonic seizure. Focal epileptiform discharges were more frequent than generalized epileptiform discharges at seizure onset and during the clinical course on conventional EEG (3.7% vs. 0%, 52.9% vs. 32.9%, respectively).</p><p><strong>Conclusions: </strong>Our study provides a comprehensive description of focal epilepsy features of <i>SCN1A</i> mutation-positive Dravet syndrome patients. Recognizing these features as defining the clinical spectrum of Dravet syndrome may lead to earlier genetic diagnosis and tailored management.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"127-135"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c0/07/jer-21019.PMC8767227.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39866859","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":"Therapeutic Challenge in a Case of Recent Onset Refractory Cluster Seizures.","authors":"Sachin Sureshbabu, Muralikrishnan Veleri Padmanabhan, Jacob Alappat, Smilu Mohanlal, Sujith Janardhanan, Sellam Karunanidhi, Lakshminarayan Kannan, Dinesh Nayak, Biju Shekhar","doi":"10.14581/jer.21022","DOIUrl":"https://doi.org/10.14581/jer.21022","url":null,"abstract":"<p><p>A dilemma exists in context to the timing of surgery in a case presenting with explosive onset seizures secondary to a focal cortical dysplasia (FCD). This case report highlights the challenges faced in the management of a 4-year-old child with recent onset cluster seizures refractory to anti-epileptic drugs. A 4-year-old girl presented with an acute onset of cluster seizures (up to 32 in a day), semiologically characterized by tonic upper limb extension and laughter lasting for few seconds with no response to multiple anti-epileptic drugs. The clinical, electrographic, neuroimaging and interictal positron emission tomography data were concordant and consistent with a left middle frontal gyrus dysplasia which was successfully resected under electrocorticographic guidance. Patient is seizure free at 2 months of follow up. (Engel Class 1). Surgical resection is feasible and potentially more effective in the early phase of clinical presentation of FCD.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"146-149"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6c/12/jer-21022.PMC8767224.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39728230","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}
Pradeep V Mahajan, Swetha Subramanian, Siddhesh C Parab, Sanskruti Mahajan
{"title":"Cell-based Therapy Approach for Drug-resistant Epilepsy.","authors":"Pradeep V Mahajan, Swetha Subramanian, Siddhesh C Parab, Sanskruti Mahajan","doi":"10.14581/jer.21021","DOIUrl":"https://doi.org/10.14581/jer.21021","url":null,"abstract":"<p><p>Drug-resistant epilepsy (DRE) is a global public health problem. This category includes patients who continue to experience seizures despite long-term anti-epileptic medications. DRE can lead to severe disability and morbidity in older children and adults and is associated with increased risk of mortality than the general population. This report describes the case of a 15-year-old male patient with DRE successfully managed with autologous cell-based and hyperbaric oxygen therapy. The patient underwent two sessions of cell-based therapy consisting of cells derived from the bone marrow, adipose tissue, and peripheral blood followed by neuro-physiotherapy and oxygen therapy. Post-treatment, the patient experienced decrease in the frequency of seizures and reduction in the dosage of anti-epileptic medications. Electroencephalogram taken one year after the therapy revealed improvement in seizure activity. The outcomes in this case may be considered a preliminary finding in formulating more robust treatment strategies using cell-based therapy for DRE.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 2","pages":"142-145"},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e1/ca/jer-21021.PMC8767221.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39866860","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":"Electroencephalogram versus Magnetic Resonance Imaging Brain as the Initial Investigation of Choice in Neurologically Normal Children with First Afebrile Seizure in India.","authors":"Jyoti Bagla, Harpreet Kaur, Anu Singhal, Devendra Mishra, Sweta Kumari, Anand Prakash Dubey, Sandhya Soneja","doi":"10.14581/jer.21008","DOIUrl":"10.14581/jer.21008","url":null,"abstract":"<p><strong>Background and purpose: </strong>To compare the rates of clinically relevant information provided by electroencephalogram (EEG) and magnetic resonance imaging (MRI) brain in first afebrile seizure (FAS) in children.</p><p><strong>Methods: </strong>In this prospective randomized controlled trial, neurologically normal children between the age of 2 and 14 years, presenting with first episode of unprovoked, afebrile generalized or partial seizures, were included. Enrolled patients were randomized into two groups. After stabilization, initial workup and management, group I-patients underwent an EEG followed by MRI, whereas group II-patients underwent an initial MRI brain followed by an EEG. The patients were followed up after results of both the investigations and then every 3 months for seizure recurrence. The primary outcome was the proportion of investigations, providing clinically relevant information. The secondary outcomes were to determine the etiological diagnosis of FAS and record adverse events associated with EEG and MRI.</p><p><strong>Results: </strong>Out of 170 enrolled patients, 52 patients (61.2%) in initial EEG group and 53 patients (70.6%) in initial MRI group had abnormal results on first investigation. An etiological diagnosis could not be made in any patient in initial EEG group. Neuroimaging revealed an etiological diagnosis in 53 patients (70.6%) in initial MRI group. Inflammatory granuloma was found to be the most common cause of FAS, followed by idiopathic epilepsy.</p><p><strong>Conclusions: </strong>The results of our study done in neurologically normal children with FAS showed a high diagnostic yield with an initial MRI. We recommend MRI brain to be considered as the initial investigation for evaluation of FAS in children.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 1","pages":"56-62"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/30/06/jer-21008.PMC8357547.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39313497","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":"Quality of Life and Stigma among Women with Epilepsy during Their Reproductive Years.","authors":"Pallerla Srikanth, Mysore Narasimha Vranda, Priya Treesa Thomas, Kenchaiah Raghvendra","doi":"10.14581/jer.21009","DOIUrl":"https://doi.org/10.14581/jer.21009","url":null,"abstract":"<p><strong>Background and purpose: </strong>The purpose of this study was to understand the relationship between quality of life and stigma among reproductive age group women with epilepsy.</p><p><strong>Methods: </strong>A cross-sectional descriptive study was conducted to assess the data from the 49 women with epilepsy from a tertiary care hospital in India. Quality of life was evaluated with the quality of life in epilepsy-31 questionnaire and stigma was evaluated with the stigma scale of epilepsy. Data also included socio-demographic and clinical characteristics.</p><p><strong>Results: </strong>The mean age of the participants was 24.67±3.72 years. Quality of life total score (r=-0.485**) and seizure worry domain (r=-0.427**) were significantly negatively correlated with stigma total score at <i>p</i><0.01 level. Being uneducated, married, unemployed, having children, having generalized tonic-clonic seizures, duration of illness (>10 years), and consuming levetiracetam, anti-epileptic drug (AED), were the significant contributing factors for low quality of life among women with epilepsy during the reproductive age group. Belonging to lower socio-economic status and taking more than two AEDs were also associated with lower quality of life among women with epilepsy, which are trending towards significance.</p><p><strong>Conclusions: </strong>The study assessed the relationship between the quality of life and the Stigma scale of epilepsy and demonstrated the impact of stigma and quality of life on socio-demographic and clinical variables of women with epilepsy under the reproductive age group. To enhance the quality of life and reduce the stigma levels among women with epilepsy, some of the modifiable parameters can be considered by the multidisciplinary health care professionals from the findings of the current research.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 1","pages":"63-71"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/85/3f/jer-21009.PMC8357557.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39325133","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":"Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.","authors":"Md Mizanur Rahman, Kanij Fatema","doi":"10.14581/jer.21004","DOIUrl":"https://doi.org/10.14581/jer.21004","url":null,"abstract":"<p><strong>Background and purpose: </strong>In childhood epilepsy, genetic etiology is increasingly recognized in recent years with the advent of next generation sequencing. This has broadened the scope of precision medicine in intractable epilepsy, particularly epileptic encephalopathy (EE). Developmental disorder (DD) is an integral part of childhood uncontrolled epilepsy. This study was performed to investigate the genetic etiology of childhood epilepsy and DD.</p><p><strong>Methods: </strong>In this study, 40 children with epilepsy and DD with positive genetic mutation were included retrospectively. It was done in a tertiary care referral hospital of Bangladesh from January 2019 to December 2020. Genetic study was done by next generation sequencing. In all cases electroencephalography, neuroimaging was done and reviewed.</p><p><strong>Results: </strong>In total, 40 children were enrolled and the average age was 41.4±35.850 months with a male predominance (67.5%). Generalized seizure was the predominant type of seizure. Regarding the association, intellectual disability and attention deficit hyperactivity disorder was common. Seventeen cases had genetically identified early infantile EE and common mutations observed were <i>SCN1A</i> (3), <i>SCN8A</i> (2), <i>SLC1A2</i> (2), <i>KCNT1</i> (2), and etc. Five patients of progressive myoclonic epilepsy were diagnosed and the mutations identified were in <i>KCTD7</i>, <i>MFSD8</i>, and <i>CLN6</i> genes. Three cases had mitochondrial gene mutation (<i>MT-ND5</i>, <i>MT-CYB</i>). Some rare syndromes like Gibbs syndrome, Kohlschütter-Tönz syndrome, Cockayne syndrome, Pitt-Hopkins syndrome and cerebral creatine deficiency were diagnosed.</p><p><strong>Conclusions: </strong>This is the first study from Bangladesh on genetics of epilepsy and DD. This will help to improve the understanding of genetics epilepsy of this region as well as contribute in administering precision medicine in these patients.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":"11 1","pages":"22-31"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/1f/jer-21004.PMC8357555.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39313493","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}