Journal of Pediatric Epilepsy最新文献

{"title":"Seizure Semiology in Focal and Generalized Epilepsies: Distinctive and Overlapping Features","authors":"Ahmad Marashly","doi":"10.1055/s-0040-1722300","DOIUrl":"https://doi.org/10.1055/s-0040-1722300","url":null,"abstract":"Abstract Studying seizure semiology is the first step in evaluating any patient with epilepsy which leads the way to further investigations and management, particularly in differentiating focal and generalized epilepsies. While the usefulness of semiological analysis has been confirmed through decades' worth of research and clinical practice, there remains some instances when the line between focal and generalized semiological features is blurred leading to difficulties identifying the type of epilepsy at hand. This in turn can lead to delayed or wrong diagnoses with significant implications.In this review article, we explain the role of semiology in epilepsy, specifically in differentiating focal versus generalized epilepsies and cover the semiological features for both groups. We also discuss the occasional overlapping semiology between the two groups and provide case examples.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"604 1","pages":"051 - 057"},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77424568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focal versus Generalized Epilepsy—An Enigma","authors":"M. Ilyas, U. Işık","doi":"10.1055/s-0041-1725992","DOIUrl":"https://doi.org/10.1055/s-0041-1725992","url":null,"abstract":"The diagnosis of focal versus generalized epilepsy can be precise in classic cases, and in other instances, we see many variabilities with overlapping features or atypical features in these epilepsies. This imperfect distinction between generalized and focal epilepsiesmakes it challenging in our clinical practice. The clinical information obtained through semiology, electroencephalography, and neuroimaging is essential for diagnostic and therapeutic purposes. There are different scenarios and practical challenges we face in evaluating distinctly diverse focal versus generalized epilepsy. The presence of various overlapping features of focal andgeneralizedepilepsies, differentmanifestationsofepilepsy syndrome, and other epileptiform discharges’ characteristics may represent a continuum between focal and generalized epilepsies. There is a spectrum with generalized appearing epileptiform discharges emanating from focal epileptic activity concordant with magnetic resonance imaging (MRI) lesion for consideration of epilepsy surgery on one side and the awareness of focal clinical and electroencephalographic (EEG) features in generalized epilepsy to help select appropriate antiepileptic drugs (AEDs) and avoid inappropriate consideration for epilepsy surgery on the other side. There are other challenging scenarios where imaging modalities such as magnetoencephalography may be useful in differentiating secondarygeneralizedepileptiformdischarges versusprimary generalized discharges and the use of positron emission tomography in case of nonconcordant electroclinical data or finding a focus in difficult-to-treat generalized epilepsy. This enigma of focal and generalized epilepsies is further compounded by challenging situations with unclear semiological features, nonlocalizing or inconclusive EEG and negative MRI. The challenge of choosing appropriate antiseizure medications and finding a good epilepsy surgery candidate may help decide the prognosis. Knowing these variabilities will not only prepare us for the challenge but also highlights the importance of analyzing the electroclinical-imaging data in depth to be in concordance. This special issue of the Journal of Pediatric Epilepsy covers this enigma of focal versus generalized epilepsy. We bring together an expert panel of basic science neuroscientists, epileptologists, neuroradiologists, andneurosurgeonsto review and discuss some carefully selected topics. In this special edition, Onat and Eskazan tested the hypothesis whether the mechanisms underlying focal limbic epilepsy are distinctively diverse than those responsible for genetic generalized epilepsies (previously known as idiopathic generalized) by using a combination of electrophysiological, genetic, and pharmacological models in rats. Ahmad Marashly provided a detailed review on the use of the semiological classification coined by Lüders et al, which allows for accurate categorization, lateralization, and localization of epilepsy based solely on ","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"309 1","pages":"043 - 044"},"PeriodicalIF":0.2,"publicationDate":"2021-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79571408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Epilepsy Surgery in Focal and Generalized Epilepsy: Current Trends and Recent Advancements","authors":"W. B. Harris, H. Phillips, A. Fallah, G. Mathern","doi":"10.1055/s-0040-1722298","DOIUrl":"https://doi.org/10.1055/s-0040-1722298","url":null,"abstract":"Abstract For a subset of children with medically intractable epilepsy, surgery may provide the best chances of seizure freedom. Whereas the indications for epilepsy surgery are commonly thought to be limited to patients with focal epileptogenic foci, modern imaging and surgical interventions frequently permit successful surgical treatment of generalized epilepsy. Resection continues to be the only potentially curative intervention; however, the advent of various neuromodulation interventions provides an effective palliative strategy for generalized or persistent seizures. Although the risks and benefits vary greatly by type and extent of intervention, the seizure outcomes appear to be uniformly favorable. Advances in both resective and nonresective surgical interventions provide promise for improved seizure freedom, function, and quality of life. This review summarizes the current trends and recent advancements in pediatric epilepsy surgery from diagnostic workup and indications through surgical interventions and postoperative outcomes.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"16 1","pages":"088 - 096"},"PeriodicalIF":0.2,"publicationDate":"2021-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90908529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carbamazepine-Induced Nonepileptic Myoclonus in a Child with Autism and Epilepsy","authors":"S. Kırık, U. Yiş","doi":"10.1055/s-0040-1721731","DOIUrl":"https://doi.org/10.1055/s-0040-1721731","url":null,"abstract":"Abstract This study deals with a child with different type of seizures several times in week and unresponsive to antiepileptic drugs. Distinguishing between epileptic seizure and motor tic in a patient diagnosed with epilepsy and autism can be challenging. In this study we presented a male child patient on carbamazepine (CBZ) therapy. In the first days of treatment seizure frequency decreased, but after CBZ treatment dosage reached 15 mg/kg/day (at the 25th day of the treatment), the patient presented to the clinic describing several episodes of myoclonus. There were no changes in electroencephalography during the myoclonus. In follow-up, myoclonus was not described after the cessation of CBZ.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"32 1","pages":"121 - 123"},"PeriodicalIF":0.2,"publicationDate":"2021-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77761212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment of First Afebrile Fit Telephone Clinic at Royal Berkshire Hospital, Reading, United Kingdom","authors":"A. Khistriya, A. Aldouri, Catherine Hagan, S. Hughes, Tammy Ives, Rati Gill, Inés Baños, Georgina K. Carey","doi":"10.1055/s-0040-1721801","DOIUrl":"https://doi.org/10.1055/s-0040-1721801","url":null,"abstract":"Abstract Children presenting with a suspected seizure are recommended to be seen by a specialist for the diagnosis and management of the epilepsies within 2 weeks of presentation. As part of the Royal College of Pediatrics and Child Health Quality Improvement Project, our project aim was to establish a first afebrile fit telephone clinic in line with The National Institute for Health and Care Excellence guidance. Our results showed safety information was poorly provided and retained at the initial consultation and a follow-up telephone call reinforced safety information and provided a point of contact for patients and families to use. The telephone follow-up also resulted in eight direct referrals into an epilepsy clinic. It is hoped the results from this project will act as a stepping stone to setting up a consultant-led first fit clinic.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"28 1","pages":"157 - 159"},"PeriodicalIF":0.2,"publicationDate":"2021-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84870750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leigh Syndrome—TUFM Gene Mutation as a New Probable Genetic Marker: A Case Report","authors":"N. Jain, Harshit Bhargava, D. Dwivedi","doi":"10.1055/s-0040-1721509","DOIUrl":"https://doi.org/10.1055/s-0040-1721509","url":null,"abstract":"Abstract Leigh's syndrome is a rare neurodegenerative disorder which is of autosomal recessive or mitochondrial inheritance. Global incidence is 1 in 40,000 although very few cases have been reported from India. Respiratory failure is the main cause of death in these children. An 8-year-old female presented to pediatric intensive care unit with chief complaints of seizure (generalized tonic-clonic seizure type), generalized weakness, and swelling, which on MRI and genetic study was diagnosed as Leigh syndrome or Leigh like syndrome. Genetic study revealed a new TUFM gene mutation. Patient improved over the time, oxygen was weaned gradually, and nasogastric tube feeding started, and patient shifted to ward, and discharged on oral antiepileptic therapy. A genetic counseling, early diagnosis, better understanding of disease can result in good seizure control and improved quality of life of these patients. TUFM gene mutation must be considered as a new probable genetic marker.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"57 1","pages":"117 - 120"},"PeriodicalIF":0.2,"publicationDate":"2020-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89044721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experience with Eslicarbazepine Acetate Treatment at a Pediatric Epilepsy Center","authors":"A. Tanritanir, Xiaofan Wang, T. Loddenkemper","doi":"10.1055/s-0040-1719160","DOIUrl":"https://doi.org/10.1055/s-0040-1719160","url":null,"abstract":"Abstract Eslicarbazepine acetate (ESL) is a novel, once-daily antiseizure medication. We evaluated the efficacy and safety profile of ESL treatment in epilepsy patients at a single tertiary epilepsy center. In this retrospective observational study, we included 32 patients with pharmacologically intractable epilepsy receiving ESL at Boston Children's Hospital from June 2014 to June 2018. We assessed treatment outcome in terms of efficacy and tolerability at first and last follow-up (f/u). Median age was 17 (interquartile range: 10.8–20.7; range: 6.5–36) years. Twelve (37.5%) patients, including three with seizure freedom, were responders at last f/u. Eleven patients discontinued ESL due to seizure worsening (9, 28%), adverse events (AEs) (2, 6%) or both (4, 12%). Responders showed greater seizure reduction at last f/u with fewer AEs as compared with nonresponders. Ten (31%) patients developed AEs, the most common being sleep problems (5, 15%). One-year retention rate with ESL treatment was 54%. In conclusion, ESL had a good response rate in patients with pharmacologically intractable epilepsy, with about one-third of patients developing AEs.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"50 1","pages":"150 - 156"},"PeriodicalIF":0.2,"publicationDate":"2020-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84895501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thyroid Functions in Children on Levetiracetam or Valproic Acid Therapy","authors":"Elif Karatoprak, Samet Paksoy","doi":"10.1055/s-0040-1716916","DOIUrl":"https://doi.org/10.1055/s-0040-1716916","url":null,"abstract":"Abstract The aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"32 1","pages":"022 - 026"},"PeriodicalIF":0.2,"publicationDate":"2020-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80442089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electroencephalographic Findings in Pediatric Patients with Anti-N-Methyl-D-Aspartate Receptor Encephalitis: The San Diego Experience","authors":"Aliya L. Frederick, Jennifer H. Yang, Natalie Guido-Estrada, Jose Soria-Lopez, Shifteh Sattar","doi":"10.1055/s-0040-1718723","DOIUrl":"https://doi.org/10.1055/s-0040-1718723","url":null,"abstract":"Abstract Diagnosing anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis clinically can be challenging. There is a growing interest in identifying specific electroencephalographic features to help guide early management. A retrospective chart review was conducted of pediatric patients admitted to Rady Children's Hospital between January 1, 2010 and April 1, 2017. We included patients with the diagnosis of encephalitis who underwent continuous video electroencephalogram (VEEG) for at least 12 hours, and presented with less than 14 days of symptoms. We compared the electroencephalographic features of non-rapid eye movement (NREM) sleep between patients with antibody confirmed anti-NMDAR encephalitis and patients with encephalitis from other etiologies. We identified seven patients who met our inclusion criteria, five of whom were diagnosed with anti-NMDAR encephalitis. Four of the five patients had a significant reduction in NREM sleep, while one patient had increased NREM sleep associated with clinical catatonia and hypersomnolence. Sleep was preserved in the two cases of nonimmune mediated encephalitis. Our results suggest that a prolonged VEEG to capture sleep coupled with clinical features can aid in early diagnosis and treatment of anti-NMDAR encephalitis, often before confirmatory antibody testing is available.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"221 1","pages":"013 - 021"},"PeriodicalIF":0.2,"publicationDate":"2020-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89153531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shuddering Attacks in an Infant","authors":"R. Koul","doi":"10.1055/s-0040-1718524","DOIUrl":"https://doi.org/10.1055/s-0040-1718524","url":null,"abstract":"Abstract Shuddering attacks are rare benign nonepileptic paroxysmal events (NEPEs) seen in infancy and early childhood. These movements may look like myoclonus or infantile spasms. Recognition of these movements is important to avoid elaborate workup and antiepileptic medications. Shuddering attacks disappear by the age of 2 years in most of these children. NEPEs are almost as common as epilepsy. It is easy to differentiate the common NEPEs from epilepsy. However, it is difficult to diagnose the rare benign NEPEs not seen before. Shuddering attacks are one of these rare NEPEs. It is commonly diagnosed as infantile spasms/myoclonus unless one observes the actual event or video very carefully.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"43 1","pages":"033 - 034"},"PeriodicalIF":0.2,"publicationDate":"2020-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86647433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}