Journal of Pediatric Epilepsy最新文献

{"title":"The Role and Controversies of Electroencephalogram in Focal versus Generalized Epilepsy","authors":"Shoba Jayaram, M. Alkhaldi, Asim M Shahid","doi":"10.1055/s-0041-1722869","DOIUrl":"https://doi.org/10.1055/s-0041-1722869","url":null,"abstract":"Abstract As early in 1935, Gibbs et al described electroencephalogram (EEG) features of large slow waves seen in “petit mal” seizures and change in background rhythm to a higher frequency, greater amplitude pattern in “grand mal” seizures. Studies have shown many typical EEG features in focal onset as well as generalized epilepsies.2 3 It is usually easy to delineate focal epilepsy cases when EEG onset of seizures is clear as seen in Benign focal epileptiform discharges of childhood.4 However, it is not uncommon to see cases where epileptiform discharges are not very clear. For example, there can be secondary bilateral synchrony or generalized onset of epileptiform discharges in some cases of focal epilepsy5 and nongeneralized EEG features is cases of generalized epilepsy like absence seizures.6 The awareness of occurrence of focal clinical and EEG features in generalized epilepsy is particularly important to help to select appropriate AEDs and also to avoid inappropriate consideration for epilepsy surgery.7 Lüders et al8 have shown that multiple factors like electroclinical seizure evolution, neuroimaging (both functional and anatomical) have to be analyzed in depth before defining an epileptic syndrome. Here, we are providing few examples of different situations where it is still mysterious to figure out focal onset seizures with secondary generalization versus primary generalized epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85893677","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":"Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy","authors":"Francesca Marchese, Elena Faedo, M. Vari, P. Bergonzini, M. Iacomino, A. Guerra, L. Franceschetti, A. Baroni, P. Scudieri, C. Minetti, P. Striano","doi":"10.1055/s-0041-1723768","DOIUrl":"https://doi.org/10.1055/s-0041-1723768","url":null,"abstract":"Abstract Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76259096","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":"Medical Management in Focal versus Generalized Epilepsy","authors":"Kumar Sannagowdara, N. Khan","doi":"10.1055/s-0040-1722297","DOIUrl":"https://doi.org/10.1055/s-0040-1722297","url":null,"abstract":"Abstract About 70% of children with new-onset epilepsy have the potential to become seizure-free on antiepileptic drug (AED) monotherapy with appropriately selected first-line medication. In ideal world, physician is expected to achieve best possible seizure control without impacting the quality of life. There is rapid increase in number of AEDs available over last couple of decades. Although not necessarily all of them are superior to old generation drugs in terms of seizure control, certainly there is change in landscape from perspective of tolerability and side-effect profile. Physicians must therefore be familiar with safety, tolerability, therapeutic effects, synergistic combinations as well as AEDs to avoid in specific circumstances. The article attempts to give general overview of available AEDs under broad umbrella of effectiveness against focal and generalized seizures as well as drugs with “broad spectrum.” The emergence of newer AEDs with broad spectrum and favorable side-effect profile is welcome. However, the future lies in better understanding of underlying diverse pathophysiology of clinical symptom “epilepsy” and developing new compounds acting on molecular targets as well as individualizing therapy. Technological advances in molecular genetics research are bringing precision medicine to the fore.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88453563","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":"Neuroimaging of Childhood Epilepsy: Focal versus Generalized Epilepsy","authors":"R. Assadsangabi, A. Ozturk, Trishna Kantamneni, Nazarin Azizi, S. Asaikar, L. Hacein-Bey","doi":"10.1055/s-0040-1722301","DOIUrl":"https://doi.org/10.1055/s-0040-1722301","url":null,"abstract":"Abstract Neuroimaging plays an increasingly crucial role in delineating the pathophysiology, and guiding the evaluation, management and monitoring of epilepsy. Imaging contributes to adequately categorizing seizure/epilepsy types in complex clinical situations by demonstrating anatomical and functional changes associated with seizure activity. This article reviews the current status of multimodality neuroimaging in the pediatric population, including focal lesions which may result in focal epileptic findings, focal structural abnormalities that may manifest as generalized epileptiform discharges, and generalized epilepsy without evidence of detectable focal abnormalities.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74496446","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":"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":null,"pages":null},"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":"Are Absence and Limbic Seizures Mutually Exclusive?: An Experimental Approach to Enigmatic Clinical Concept","authors":"F. Onat, E. Eşkazan","doi":"10.1055/s-0041-1722870","DOIUrl":"https://doi.org/10.1055/s-0041-1722870","url":null,"abstract":"Abstract The impressive advances in the several disciplines including neurophysiology, molecular biology, neuroimmunology, neurogenetics, neuroimaging, and neuropharmacology of epilepsies have been stimulating a mutual interaction among basic scientists, clinicians, and professionals from other disciplines, leading to the identification of clinical questions and then the design of basic science paradigms to test enigmatic clinical issues. Based on a clinical observation that the coexistence of genetic (idiopathic) generalized typical absence and mesial temporal lobe epilepsy in the same patient is extremely rare and debatable, we addressed the rare coexistence in the same individual, designed an experimental approach to test the validity of this clinical concept and to study the underlying mechanisms involved. Here we presented evidence of a mutual cross-interaction in the circuits involved in typical absence and temporal lobe epilepsy. This article delineates a phenomenological picture and comprehends a theoretical understanding of a mutual cross-interaction in typical absence as a representative of genetic generalized epilepsies and limbic epilepsy in which seizures often start from the mesial temporal lobe.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79427608","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":null,"pages":null},"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":"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":null,"pages":null},"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":"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":null,"pages":null},"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":"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":null,"pages":null},"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}