bluuebunny/crossref_metadata_2025_split huggingface dataset:
The natural history and prognosis of epilepsy
Authors: Beghi Ettore , Giussani Giorgia , Sander Josemir W. 
Published: August 2019

AbstractEpilepsy is a brain condition characterized by the recurrence of unprovoked seizures. Generally, prognosis refers to the probability of attaining seizure freedom on treatment and little is known about the natural history of the untreated condition. Here, we summarize aspects of the prognosis and prognostic predictors of treated and untreated epilepsy and of its different syndromes. Usually, epilepsy is a fairly benign condition. Most epilepsies have a good prognosis for full seizure control and eventual discontinuation of AEDs, but epilepsy syndromes have differing outcomes and responses to treatment. Prognostic factors include aetiology, EEG abnormalities, type of seizures and the number of seizures experienced before treatment onset, and poor early effects of drugs. Early response to treatment is an important positive predictor of long‐term prognosis, while the history of a high number of seizures at the time of diagnosis, intellectual disability, and symptomatic aetiology are negative predictors. Different prognostic patterns can be identified, suggesting that the epileptogenic process is not static. Epilepsy carries a greater than expected risk of premature death. Aetiology is the single most important risk factor for premature death.
Epilepsy classification and additional definitions in occipital lobe epilepsy
Authors: Yilmaz Kutluhan , Karatoprak Elif Yüksel 
Published: August 2019

AbstractAim. To evaluate epileptic children with occipital lobe epilepsy (OLE) in the light of the characteristics of Panayiotopoulos syndrome and late‐onset occipital lobe epilepsy of Gastaut (OLE‐G).Methods. Patients were categorized into six groups: primary OLE with autonomic symptoms (Panayiotopoulos syndrome), primary OLE with visual symptoms (OLE‐G), secondary OLE with autonomic symptoms (P‐type sOLE), secondary OLE with visual symptoms (G‐type sOLE), and non‐categorized primary OLE and non‐categorized secondary OLE according to characteristic ictal symptoms of both Panayiotopoulos syndrome and OLE‐G, as well as aetiology (primary or secondary). Patients were compared with regards to seizure symptoms, aetiology, cranial imaging, EEG, treatment and outcome.Results. Of 108 patients with OLE (6.4±3.9 years of age), 60 patients constituted primary groups (32 with Panayiotopoulos syndrome, 11 with OLE‐G, and 17 with non‐categorized primary OLE); the other 48 patients constituted secondary groups (eight with P‐type sOLE, three with G‐type sOLE, and 37 with non‐categorized sOLE). Epileptiform activity was restricted to the occipital area in half of the patients. Generalized epileptiform activity was observed in three patients, including a patient with Panayiotopoulos syndrome (PS). Only one patient had refractory epilepsy in the primary groups while such patients made up 29% in the secondary groups.Conclusion. In OLE, typical autonomic or visual ictal symptoms of Panayiotopoulos syndrome and OLE‐G do not necessarily indicate primary (i.e. genetic or idiopathic) aetiology. Moreover, primary OLE may not present with these symptoms. Since there are many patients with OLE who do not exhibit the characteristics of Panayiotopoulos syndrome or OLE‐G, additional definitions and terminology appear to be necessary to differentiate between such patients in both clinical practice and studies.
Inflammatory markers associated with seizures
Authors: Sohn Hong Seok , Kim Sung Keun , Lee Seo‐Young 
Published: August 2019

AbstractAim. Seizures can produce systemic changes, including elevated body temperature, white blood cell count, and C‐reactive protein levels, which raises concern for potential infection. We describe seizure‐induced inflammation‐like responses and discuss how these changes may be distinguished from those associated with infection.Methods. We prospectively investigated 140 consecutive visits to the emergency room, in which patients presented with seizures. We defined elevated body temperature, white blood cell count, or C‐reactive protein levels as inflammation‐like responses. We investigated the occurrence of inflammation‐like responses, characteristics of the seizures, neurological status at the initial visit, outcomes, and clinical findings to determine the presence of infection. We ascertained whether the patients had infection or not based on the overall information post‐discharge.Results. An inflammation‐like response was observed in 56.3% of all visits and 19.3% were diagnosed with concurrent infection. Among the visits with inflammation‐like response, 34.7% were shown to have an infection. Increases in body temperature and C‐reactive protein levels were milder (<39°C and <6 mg/dl, respectively) in patients without infection compared to those with infection, whereas there was no difference in leukocytosis, with regard to the presence or absence of infection. Increased body temperature occurred only in cases of generalized tonic‐clonic seizures, whereas leukocytosis and elevated C‐reactive protein levels were reported in patients with any type of seizure. Body temperatures returned to normal within eight hours in uncomplicated cases.Conclusion. Seizures frequently induce an increase in body temperature, white blood cell count, or C‐reactive protein levels, making it challenging to distinguish these changes from those associated with infection. Nonetheless, elevated body temperature in the absence of generalized tonic‐clonic seizures, above 39°C, or persisting for more than eight hours after recovery of consciousness, and C‐reactive protein levels above 6 mg/dl warrant close observation and consideration for concurrent infection.
Reflex operculoinsular seizures
Authors: Xiao Handsun , Tran Thi Phuoc Yen , Pétrin Myriam , Boucher Olivier , Mohamed Ismail , Bouthillier Alain , Nguyen Dang Khoa 
Published: August 2019

AbstractActivation of specific cortical territories by certain stimuli is known to trigger focal seizures. We report three cases of well documented operculo‐insular reflex seizures, triggered by somatosensory stimuli in two and loud noises in the third. Limited operculoinsular resection resulted in an excellent outcome for all. We discuss these observations in regard to the literature on reflex epilepsy and known functions of the insula. [Published with video sequences online]
One‐year clinical experience of perampanel in Spain: a multicentre study of efficacy and tolerability
Authors: Garamendi‐Ruiz Iñigo , García‐García María Eugenia , Bertol‐Alegre Vicente , Mauri‐Llerda José Ángel , García‐Morales Irene , Garayoa‐Irigoyen Vanesa , Agúndez‐Sarasola Marta , De Toledo‐Heras María , García‐Morales Vanessa , García‐Gomara María José , Arcos‐Sánchez Carolina , Gago‐Veiga Ana , Escalza‐Cortina Inés , Rueda‐Mena Eliana , Muñoz‐Fargas Elena , Santos‐Lasaosa Sonia , Oliván‐Usieto José Antonio , de Cerio‐Julián Leyre Díaz , Gómez‐Esteban Juan Carlos , Marinas‐Alejo Ainhoa 
Published: August 2019

AbstractPerampanel, a non‐competitive antagonist of the α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole‐propionic acid receptors, is the most recent antiepileptic drug available in Spain, marketed in January 2014. It was initially approved by the European Medicines Agency as adjunctive treatment for partial‐onset seizures in patients 12 years and older, but recently also for primary generalized tonic‐clonic seizures. Although clinical trials provide essential information about the drug, they do not reflect daily clinical practice. This retrospective study shows the initial experience with perampanel in 11 Spanish hospitals during its first year post‐commercialisation. All patients who started perampanel treatment were included, but efficacy and tolerability were only assessed in those patients with a minimum follow‐up period of six months. In total, 256 patients were treated with perampanel before September 2014, and 253 had an observational period of one year. After six months, 216/256 patients (84%) continued on perampanel and 180/253 (71.1%) completed one year of treatment. The mean number of previous antiepileptic drugs used was 6.83 and the median number of concomitant antiepileptic drugs was 2. The mean perampanel dose was 7.06 mg and 8.26 mg at six and 12 months, respectively. The responder rate was 39.5% and 35.9% at both follow‐up points, respectively. Adverse events were experienced by 91/253 (35.5%) and resulted in withdrawal in 37 (14.6%). The most common adverse events were somnolence, dizziness, and irritability. We found no significant differences between concomitant use of enzyme‐inducing and non‐inducing antiepileptic drugs, regarding efficacy, adverse effects, or withdrawals. Irritability was not influenced by concomitant use of levetiracetam, relative to other drugs, but was more frequently observed in patients with a history of psychiatric problems or learning disabilities.
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)
Authors: Roussel Benoit D. , Lomas David A. , Crowther Damian C. 
Published: August 2019

AbstractFamilial encephalopathy with neuroserpin inclusion bodies (FENIB) is a conformational proteinopathy characterised by neuronal inclusion bodies composed of the serine protease inhibitor (SERPIN), neuroserpin. Presenting clinically as a familial dementia‐epilepsy syndrome, the molecular mechanism of the pathogenic abnormalities in neuroserpin has been characterised at atomic resolution. There is a remarkable genotype‐phenotype correlation between the degree of molecular destabilisation of the several variants of the neuroserpin protein, their propensity to self‐associate and the age of onset of the dementia‐epilepsy complex. As with other serpinopathies there appears to be a mix of cell‐autonomous toxicity, due to neuronal accumulation of neuroserpin, and non‐cell autonomous toxicity, caused by loss of protease inhibition, in this case the dysregulated protease is likely to be tissue plasminogen activator (tPA). FENIB should be considered in cases of progressive myoclonic epilepsy and dementia particularly where there is family history of neuropsychiatric disease.
Post‐modern therapeutic approaches for progressive myoclonus epilepsy
Authors: Minassian Berge A. 
Published: August 2019

AbstractWhile the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well‐developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood, and extremely difficult‐to‐correct, neural network of the brain is affected. This last article reviews the latest cutting edge technologies in monogenic disease therapy, with some examples provided applicable to a number of disease. It aims to give a sense of where we are and how much closer we are, to the goal of making an actual organic difference.
Might the olfactory bulb be an origin of olfactory auras in focal epilepsy?
Authors: Sarnat Harvey B. , Flores‐Sarnat Laura 
Published: August 2019

AbstractOlfactory auras (phantosmia) are an infrequent phenomenon in complex focal seizures generated in the mesial temporal lobe. It is generally assumed that all such auras arise from epileptic foci in the entorhinal cortex, amygdala or rostral insula, all of which have major afferent projections from the olfactory bulb or mainly from its relay, the anterior olfactory nucleus. The histological morphology, synaptic circuitry, and foetal development of the olfactory bulb are unique. The olfactory system is the only special sensory system that does not project to the thalamus because its bulb and tract incorporate an intrinsic thalamic equivalent: axonless granular and periglomerular neurons and the anterior olfactory nucleus. The olfactory bulb exhibits continuous synaptic turnover throughout life. Other brain structures with synaptic plasticity (neocortex, hippocampus, and amygdala) are epileptogenic; synaptically stable structures (brainstem, cerebellum, and basal ganglia) are not epileptogenic. Electrophysiological and neuropathological data of the olfactory bulb in epilepsy are sparse. We propose an alternative hypothesis, first hinted in 1954 by Penfield and Jasper, that some epileptic olfactory auras are primarily generated by the olfactory bulb and secondarily mediated by the amygdala and entorhinal cortex.
Antiepileptic drug adherence and persistence in children with epilepsy attending a large tertiary care children's hospital
Authors: Lee Yon‐Kyong , Ah Young‐Mi , Choi Yun Jung , Cho Yoon Sook , Kim Ki Joong , Lee Ju‐Yeun 
Published: August 2019

AbstractWe aimed to evaluate antiepileptic drug treatment persistence and adherence in paediatric epilepsy patients and investigate the association between medication‐taking behaviours and clinical outcome.Methods. Medical and prescription records of newly treated paediatric epilepsy patients, aged 1–18 years who initiated antiepileptic drug monotherapy in a tertiary teaching hospital, were retrospectively reviewed. The rates of overall treatment, non‐persistence, a treatment gap >60 days, and adherence, as measured by a medication possession ratio ≥0.8, were assessed. The relationship between non‐adherence and clinical outcome, defined as an emergency department visit or hospitalisation due to seizure‐related reasons, was analysed.Results. A total of 1,172 patients met the inclusion criteria. The proportion of patients who were both persistent and adherent at one year was 70.14% and decreased to 56.83% at two years. Patients who started an antiepileptic drug at one year of age, took older generation antiepileptic drugs as the initial treatment, and those diagnosed with localized seizures were less likely to be adherent to and persistent with overall antiepileptic drug treatment. Patients who were non‐adherent to antiepileptic drug treatment were at an increased risk of hospitalisation or emergency department visits for seizure‐related reasons (adjusted HR 2.10, 95% CI 1.25–3.55).Conclusions. This large population study shows that 70% of paediatric epilepsy patients were persistent with and adherent to antiepileptic drugs after one year of treatment and confirms that non‐adherence to antiepileptic drug treatment is an important factor in seizure‐related clinical outcome.
Amoxicillin, a potential epileptogenic drug
Authors: Raposo João , Teotónio Rute , Bento Conceição , Sales Francisco 
Published: August 2019

AbstractBeta‐lactams are known to cause a wide spectrum of neurotoxic manifestations including epileptic seizures. The neurotoxicity of penicillin was first reported in 1945 by Johnson and Walker and is believed to exert an inhibitory effect on gamma‐aminobutyric acid transmission of cortical pyramidal cells, due to its beta‐lactam ring structure. Epileptogenicity is also a feature of the semisynthetic beta‐lactams including aminopenicillins. In this report, we present a patient with a recurrent history of discrete body twitching/jerks of epileptic nature in the context of amoxicillin exposure. The EEG revealed intermittent generalized short bursts of beta‐frequency polyspikes. This electro‐clinical picture was reversed by amoxicillin discontinuation.
Dosing strategies for antiepileptic drugs: from a standard dose for all to individualised treatment by implementation of therapeutic drug monitoring
Authors: Landmark Cecilie Johannessen , Johannessen Svein I. , Tomson Torbjörn 
Published: August 2019

AbstractThis review focuses on the evolution of approaches to dosing of antiepileptic drugs (AEDs) in clinical practice through history. There has been a shift in the view of treatment of epilepsy, from “one dose fits all patients” in the early days to individualisation of treatment. Over the past 50 years, our knowledge of pharmacological variability of AEDs has markedly increased through implementation of therapeutic drug monitoring (TDM). The use of TDM has demonstrated extensive pharmacokinetic variability for AEDs and a need to individualise the treatment for an optimal outcome. Factors that contribute to pharmacokinetic variability include external factors (including food and comedication), physiological factors (gender, age, and pregnancy), pathological conditions (organ dysfunction), and genetic factors (polymorphisms in metabolising enzymes). Patient groups of children, pregnant women, and the elderly, in whom the most extensive pharmacokinetic changes occur, need special attention and close follow‐up of treatment. Patients with complicated and changing combination treatments are also vulnerable. Therapeutic drug monitoring may be particularly helpful in such situations. There are also challenges regarding the use and misuse of therapeutic drug monitoring, such as the use of drug monitoring without a clear indication, misinterpretation of the reference range, and erroneous sampling times.
Epileptic spasms in congenital disorders of glycosylation
Authors: Pereira Andreia G. , Bahi‐Buisson Nadia , Barnerias Christine , Boddaert Nathalie , Nabbout Rima , de Lonlay Pascale , Kaminska Anna , Eisermann Monika 
Published: August 2019

AbstractAim. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare.Methods. We describe, retrospectively, the electroclinical features in five children with CDG and epileptic spasms.Results. Epileptic spasms were observed in patients with ALG1‐, ALG6, ALG11‐CDG and CDG‐Ix, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months. In this patient, spasms had an unusual aspect; they did not occur in clusters and were immediately preceded by a myoclonus. All but one child also presented rare myoclonias. On EEG, background activity was poorly organized with abundant posterior spike and fast rhythm activity, but without hypsarrhythmia. At the last evaluation (age range: 6–12 years), two patients still presented epileptic spasms and subcortical myoclonias, one showed rare generalized tonic‐clonic seizures, and two were seizure‐free.Conclusion. CDG disorders can be associated with epileptic spasms showing particular features, such as absence of hypsarrhythmia, posterior EEG anomalies, and an unusual combination of epileptic spasms with myoclonus. These features, associated with pre‐existing developmental delay and subcortical myoclonias, may shift toward CDG screening. [Published with video sequence and supplemental EEG plates on www.epilepticdisorders.com]
ILAE survey of neuropsychology practice in pediatric epilepsy surgery evaluation
Authors: Berl Madison M. , Smith Mary Lou , Bulteau Christine ,   and the Task Force for Pediatric Epilepsy Surgery for the ILAE Commissions of Pediatrics, Surgical Therapies
Published: August 2019

AbstractAims. To determine the extent to which specific neuropsychological measures are in common use around the world for the assessment of children who are candidates for epilepsy surgery.Materials and methods. As part of the work of the International League Against Epilepsy Pediatric Surgical Task Force, a survey was developed and distributed online. The survey consisted of questions related to demographics, training experience, general practice, and specific measures used and at what frequency.Results. Seventy‐eight clinicians with an average of 13.5 years of experience from 19 countries responded to the survey; 69% were English‐speaking. Pre‐ and post‐neuropsychological evaluations were conducted with a majority of children undergoing surgical resection for epilepsy. There was high consistency (>90%) among the domains evaluated, while consistency rate among specific measures was more variable (range: 0–100%). Consistency rates were also lower among respondents in non‐English‐speaking countries. For English‐speaking respondents, at least one measure within each domain was used by a majority (>75%) of clinicians; 19 specific measures met this criterion.Conclusion. There is consensus of measures used in neuropsychological studies of pediatric epilepsy patients which provides a basis for determining which measures to include in establishing a collaborative data repository to study surgical outcomes of pediatric epilepsy. Challenges include selecting measures that promote collaboration with centers in non‐English‐speaking countries and providing data from children under age 5.
Ictal asystole in a patient with posterior reversible encephalopathy syndrome (PRES) and seizures
Authors: Suski Joanna , Ho Reginald , Nei Maromi 
Published: August 2019

AbstractWe describe a case of ictal asystole in a patient with posterior reversible encephalopathy syndrome (PRES), which has never been described previously. Ictal asystole is rare and has possible serious medical consequences, including syncope, and may be a potential mechanism for sudden unexpected death in epilepsy (SUDEP). Awareness that PRES may be observed with recurrent ictal asystole may aid in the recognition and treatment of seizures in this condition and the prevention of asystole‐associated complications.
Seizure semiology of anti‐LGI1 antibody encephalitis
Authors: Beimer Nicholas J. , Selwa Linda M. 
Published: August 2019

ABSTRACTLimbic encephalitis associated with anti‐LGI1 antibody (LGI1 encephalitis) presents with a variety of features, the most prominent of which include seizures and progressive disturbance of memory and behaviour. Although varied in semiology, recognition of the pattern of seizures in LGI1 encephalitis is important, as early diagnosis and definitive treatment may prevent subsequent development of cognitive impairment. We present a patient with LGI1 encephalitis and “faciobrachial dystonic seizures‐plus”, which began as classic faciobrachial dystonic seizures and progressed to focal seizures with impaired awareness, dacrystic/gelastic‐like outbursts, ictal speech, manual automatisms, and autonomic signs (tachycardia). Recognition of the broad range of seizure types associated with LGI1 encephalitis is crucial for early diagnosis and definitive treatment. [Published with video sequence on www.epilepticdisorders.com]
Crossing the lines between epilepsy syndromes: a myoclonic epilepsy variant with prominent eyelid myoclonia and atonic components
Authors: Pinelopi Dragoumi , Emery Jacqueline , Chivers Fiona , Brady Megan , Desurkar Archana , Cross J Helen , Das Krishna B 
Published: August 2019

ABSTRACTAccurate diagnosis of a distinct epilepsy syndrome is based on well‐defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases may present with unusual manifestations posing a diagnostic challenge. This heterogeneity has been documented in several cases presenting with eyelid myoclonia with or without absences (EMA) diagnosed either as Jeavons syndrome (JS) variants or as genetic generalised epilepsies defined by the presence of this unique clinical entity. The hallmark of JS is the triad: (1) eyelid myoclonia with or without absences, (2) eye closure‐induced paroxysms, and (3) photosensitivity. The presence of massive myoclonus, intellectual disability, or slowing of the EEG background are not typical features of the syndrome and may cause delay in making the correct diagnosis. Adding to the variability of clinical features, we describe two female paediatric patients with probable genetic epilepsy who presented with EMA but demonstrated clear atypical features, such as prominent myoclonic seizures, atonic components on video‐EEG, and cognitive impairment. We also note the presence of interictal and ictal posterior discharges during eyelid myoclonia in one, supporting similar previous observations leading to consideration of EMA as an occipital cortex‐initiated seizure activity. [Published with video sequences on www.epilepticdisorders.com].