bluuebunny/crossref_metadata_2025_split huggingface dataset:
Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials
Authors: Michelucci Roberto , Pasini Elena , Riguzzi Patrizia , Andermann Eva , Kälviäinen Reetta , Genton Pierre 
Published: August 2019

AbstractGeneralized motor seizures, usually tonic‐clonic, tonic‐vibratory, myoclonic or clonic, and stimulus‐sensitive/action myoclonus are typical features of progressive myoclonus epilepsies (PMEs). Despite the introduction of many anticonvulsants, the treatment of these symptoms, particularly myoclonus, remains challenging, due to the incomplete and often transitory effects of most drugs. Moreover, treatment is only symptomatic, since therapy targeting the underlying aetiology for these genetic conditions is in its infancy. Traditional antiepileptic drugs for the treatment of PMEs are valproate, clonazepam, and phenobarbital (or primidone). These drugs may improve the overall performance of PME patients by decreasing their generalized seizures and, to a lesser extent, their myoclonic jerks. Newer drugs which have been shown to be effective include piracetam, levetiracetam, topiramate, zonisamide, and possibly perampanel for Lafora disease. The potential of other drugs (such as L‐triptophan and N‐acetylcysteine) and procedures (such as vagal and deep brain stimulation) has also been discussed. The available data on the efficacy of drugs are mainly based on small series or anecdotal reports. Two prospective, randomized, double blind studies investigating the novel SV2A ligand, brivaracetam, in genetically confirmed Unverricht‐Lundborg patients have been performed with disappointing results. When treating PMEs, particular care should be paid to avoid drugs known to aggravate myoclonus or myoclonic seizures, such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, vigabatrin, tiagabine, gabapentin, and pregabalin. The emergency treatment of motor status, which often complicates the course of PMEs, consists of intravenous administration of benzodiazepines, valproate, or levetiracetam.
Control groups in paediatric epilepsy research: do first‐degree cousins show familial effects?
Authors: Hanson Melissa , Morrison Blaise , Jones Jana E. , Jackson Daren C. , Almane Dace , Seidenberg Michael , Zhao Qianqian , Rathouz Paul J. , Hermann Bruce P. 
Published: August 2019

AbstractAim. To determine whether first‐degree cousins of children with idiopathic focal and genetic generalized epilepsies show any association across measures of cognition, behaviour, and brain structure. The presence/absence of associations addresses the question of whether and to what extent first‐degree cousins may serve as unbiased controls in research addressing the cognitive, psychiatric, and neuroimaging features of paediatric epilepsies.Methods. Participants were children (aged 8–18) with epilepsy who had at least one first‐degree cousin control enrolled in the study (n=37) and all enrolled cousin controls (n=100). Participants underwent neuropsychological assessment and brain imaging (cortical, subcortical, and cerebellar volumes), and parents completed the Child Behaviour Checklist (CBCL). Data (based on 42 outcome measures) from cousin controls were regressed on the corresponding epilepsy cognitive, behavioural, and imaging measures in a linear mixed model and case/control correlations were examined.Results. Of the 42 uncorrected correlations involving cognitive, behavioural, and neuroimaging measures, only two were significant (p<0.05). The median correlation was 0.06. A test for whether the distribution of p values deviated from the null distribution under no association was not significant (p>0.25). Similar results held for the cognition/behaviour and brain imaging measures separately.Conclusions. Given the lack of association between cases and first‐degree cousin performances on measures of cognition, behaviour, and neuroimaging, the results suggest a non‐significant genetic influence on control group performance. First‐degree cousins appear to be unbiased controls for cognitive, behavioural, and neuroimaging research in paediatric epilepsy.
Myoclonic jerks are commonly associated with absence seizures in early‐onset absence epilepsy
Authors: Nasser Hala , Lopez‐Hernandez Elisa , Ilea Adina , Le Morvan Neli , Bellavoine Vanina , Delanoë Catherine , Auvin Stéphane 
Published: August 2019

AbstractAim. Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early‐onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome.Methods. We retrospectively studied (2006–2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre‐treatment video‐EEG).Results. Nine patients were included. Among them, eight patients had rhythmic myoclonic jerks involving the muscles of the upper face (eyebrows and eyelids) or neck, present from the onset to the end of the typical absence discharge. The myoclonia were synchronous with spike‐wave complexes. One patient with GLUT‐1 deficiency was refractory to antiepileptic polytherapy. The other eight became seizure‐free; five with one antiepileptic drug and three with a combination of two drugs. The treatment was successfully withdrawn in five of the six patients who achieved two years of seizure freedom. None of them exhibited any other seizure type. Four of the eight patients with normal schooling required some support. We observed a positive correlation between the duration of absence seizure and the age of the patient at examination.Conclusion. Most of the patients under four years with only typical absence seizures had EOAE, and the motor symptoms may represent a distinctive age‐related feature of EOAE. Further investigations are required to better correlate the role of brain maturation with the duration of the absence. [Published with video sequence on www.epilepticdisorders.com]
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2‐related neonatal epileptic encephalopathy
Authors: Buttle Sarah Grace , Sell Erick , Dyment David , Bulusu Srinivas , Pohl Daniela 
Published: August 2019

AbstractWe report the case of an infant with KCNQ2‐related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. Continuous EEG recordings starting on the sixth day of life demonstrated a unique pattern of inter‐and postictal focal rhythmic pointed theta waves of lambdoid morphology in the immediate postictal period, localizing to the side of the antecedent seizure. Interictal EEG exhibited discontinuous background, including patterns of burst suppression and multifocal discharges, predominantly in the centrotemporal regions, which were aggravated during sleep. MRI demonstrated T1 signal abnormalities in the basal ganglia, bilaterally. Genetic testing revealed a de novo missense mutation in KCNQ2 at position c.545 T>G, encoding a previously unreported substitution (p.Val182Gly). Seizure control was achieved immediately after starting a lidocaine infusion at age 4 weeks. The patient remained largely seizure‐free following add‐on oral carbamazepine for maintenance therapy and weaning off lidocaine. This is the first report of a patient with KCNQ2‐related neonatal epileptic encephalopathy and therapy‐refractory seizures aborted by lidocaine, demonstrating a unique EEG pattern of inter‐ and postictal focal rhythmic pointed theta waves. Whether this pattern could be an early EEG marker for this disorder remains to be confirmed. [Published with video sequences on www.epilepticdisorders.com]
Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A
Authors: Sculier Claudine , Tilmant Anne‐Sophie , De Tiège Xavier , Giurgea Sanda , Paquier Philippe , Rudolf Gabrielle , Lesca Gaetan , Van Bogaert Patrick 
Published: August 2019

AbstractEpileptic encephalopathies with continuous spike‐and‐waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity.Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6‐year‐old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS. MEG showed bilateral superior parietal and opercular independent CSWS onsets and PET with fluorodeoxyglucose demonstrated significant increase in relative glucose metabolism in bilateral superior parietal regions. Corticosteroids induced a regression of CSWS together with impressive improvement in speech abilities.This case supports the hypothesis of a triggering role for epileptic discharges in speech deterioration observed in children carrying a deleterious variant of GRIN2A. When classic antiepileptic drugs fail to control epileptic activity, corticosteroids should be considered. Multimodal functional neuroimaging suggests a role for opercular and superior parietal areas in acquired epileptic opercular syndrome. [Published with video sequences on www.epilepticdisorders.com]
Hyperkinetic motor seizures: a common semiology generated by two different cortical seizure origins
Authors: Vaugier Lisa , McGonigal Aileen , Lagarde Stanislas , Trébuchon Agnes , Szurhaj William , Derambure Philippe , Bartolomei Fabrice 
Published: August 2019

AbstractWe report a 37‐year‐old, right‐handed patient with drug‐resistant focal epilepsy whose seizures were characterized by explosive hyperkinetic behaviour. Video‐SEEG revealed bifocal organization of epilepsy with two distinct cortical origins of seizures: the right temporal pole and left temporal lateral and perisylvian cortex. Irrespective of the cortical pattern of seizure onset, the hyperkinetic semiology was extremely similar. This supports a major role for “final common pathway” subcortical circuits in the genesis of the hyperkinetic semiology in this patient.
Atlas of Electroencephalography, 3rd Edition
Authors: Asadi‐Pooya Ali Akbar , Dlugos Dennis , Skidmore Christopher , Sperling Michael R 
Published: August 2019

AbstractElectroencephalography (EEG) is the recording of the electrical activity of the brain. EEG is a reliable test to assess cerebral function. It aids in diagnosis, classification, and management of patients with epilepsy. It also has practical uses in conditions other than epilepsy. Moreover, it is harmless and inexpensive. EEG is an important tool for evaluating patients with epilepsy. It may help classify the syndrome, identify the likely source of focal seizures, and confirm a diagnosis of status epilepticus. EEG is therefore helpful when selecting appropriate antiepileptic drugs for patients with epilepsy, is valuable for diagnosis and management of status epilepticus as well as predicting the prognosis in epilepsy syndromes, and, is finally useful when localizing an area for resection in surgery candidates. In addition, despite advances in neuroimaging, EEG remains a valuable tool in the evaluation of stuporous and comatose patients. A systematic approach is essential for EEG interpretation, and when combined with good clinical judgment, it will improve diagnostic sensitivity and specificity and may improve therapeutic outcomes. This EEG atlas is designed as a practical guide for neurology residents, neurologists, and epileptologists, so that they may appropriately identify normal and abnormal findings, while reading an EEG. By reading and reviewing the relevant chapter of this well‐organized atlas, that includes many EEG images, the reader will also learn how to report an EEG finding. We hope that this atlas fills an unmet need, and leads to improved patient care.
Occipital ulegyria causing epilepsy and visual impairment: an easily overlooked epilepsy syndrome
Authors: O'Connor Antoinette , Costello Daniel J. 
Published: August 2019

ABSTRACTUlegyria refers to scarring of the cerebral cortex usually arising from perinatal ischaemia. The scarring has a specific configuration in which small atrophic circumvolutions at the bottom of a sulcus underlie an intact spared gyral apex. This disconnection of overlying cortex may allow an “epileptogenic” island of cortex to generate seizures. Ulegyria is often associated with epilepsy and developmental delay, however, the syndromic association of visual impairment with epilepsy due to occipital ulegyria may not be recognised as a specific entity. Here, we report a series of five patients with occipital ulegyria who presented with widely variable seizure semiology and an array of visual deficits. In some patients, the link between the epilepsy and the visual impairment was not appreciated until they attended an epilepsy clinic.
Somatosensory reflex epilepsy: simultaneous video‐EEG monitoring and surface EMG
Authors: Hwang Kyoung Jin , Seo Dae Won , Hong Seong Bong , Joo Eun Yeon 
Published: August 2019

ABSTRACTSomatosensory reflex epilepsy is induced by repetitive cutaneous contact of a circumscribed body area with a tight time‐lock between somatosensory stimulation and seizure. We describe the case of a 27‐year‐old man with seizures induced by repetitive tapping on the sole of the right foot. Simultaneous video‐EEG monitoring and surface electromyography was performed during a seizure triggered by repetitive tapping on the right sole aspect using a hammer. Stimulation produced a tingling sensation on the right sole that extended to the right lower leg. This was followed by motor Jacksonian march of the right leg. [Published with video sequence on www.epilepticdisorders.com]
Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review
Authors: Stevelink Remi , Sanders Maurits WCB. , Tuinman Maarten P. , Brilstra Eva H. , Koeleman Bobby PC. , Jansen Floor E. , Braun Kees PJ. 
Published: August 2019

ABSTRACTAims. In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy.Methods. We systematically searched PubMed and Embase prior to January 2017 and included studies describing treatment outcome following epilepsy surgery in patients with genetic causes of epilepsy. We excluded studies in which patients were described with epilepsy due to Tuberous Sclerosis Complex or Sturge‐Weber syndrome (since this extensive body of research has recently been described elsewhere) and articles in which surgery was aimed to be palliative.Results. We identified 24 eligible articles, comprising a total of 82 patients who had undergone surgery for (mainly childhood‐onset) refractory epilepsy due to 15 different underlying genetic causes. The success rate of surgery varied widely across these different genetic causes. Surgery was almost never effective in patients with epilepsy due to mutations in genes involved in channel function and synaptic transmission, whereas surgery was significantly more successful regarding seizure control in patients with epilepsy due to mutations in the mTOR pathway. Patients with a lesion on MRI tended to have higher seizure freedom rates than those who were MRI‐negative.Conclusion. Although the evidence is still scarce, this systematic review suggests that studying genetic variations in patients with refractory epilepsy could help guide the selection of surgical candidates.
Two cases of opercular myoclonic‐anarthric status epilepticus
Authors: Muñoz‐Lopetegi Amaia , Fernández García de Eulate Gorka , Rodríguez‐Antigüedad Muñoz Jon , Bergareche Alberto , José Poza Juan 
Published: August 2019

ABSTRACTOpercular myoclonic‐anarthric status epilepticus (OMASE) is a rare form of epilepsia partialis continua presenting as fluctuating dysarthria, or even anarthria. The condition is caused by an epileptogenic lesion involving the opercular cortex of either hemisphere. Speech impairment is secondary to bilateral epileptic activity affecting the glossopharyngeal muscles. This bilateral nature of the condition is due to the fact that innervation of cranial nerves V, VII, IX, X and XII from the opercular area of the primary motor cortex is bilateral. The aetiology of the condition varies, and includes vascular lesions, tumours, and encephalitis, among other causes. A low threshold for clinical suspicion is necessary in order to ensure the timely initiation of antiepileptic treatment, thereby preventing the condition from becoming drug resistant. We present two cases of OMASE which differ in terms of aetiology, clinical course, and treatment response. [Published with video sequences on www.epilepticdisorders.com].
Under‐reporting of sudden unexpected death in epilepsy
Authors: Chen Sarah , Joodi Golsa , Devinsky Orrin , Sadaf Murrium I. , Pursell Irion W. , Simpson Ross J. 
Published: August 2019

ABSTRACTAims. The identification and characterization of sudden unexpected deaths in epilepsy (SUDEP) may be improved, helping to optimize prevention and intervention. We set out to assess the frequency and demographic and clinical characteristics of SUDEP cases in a sudden death cohort.Methods. All out‐of‐hospital deaths were investigated from March 1, 2013 to February 28, 2015 in Wake County, NC, attended by the Emergency Medical Services. Cases were screened and adjudicated by three physicians to identify sudden death cases from any cause among free‐living adults, aged 18–64. In total, 399 sudden death victims were identified during this two‐year period. Seizure history, demographic and clinical characteristics, and healthcare utilization patterns were assessed from death records, emergency response scene reports, and medical records. Sudden death cases with a history of seizures were summarized by an experienced chart abstractor (SC) and adjudicated by an experienced neurologist (OD). We then compared demographic and clinical characteristics and healthcare utilization patterns of neurologist‐identified SUDEP cases to other sudden death victims in our population‐based registry of sudden death from any cause.Results. SUDEP accounted for 5.3% of sudden deaths. However, seizures or complications of seizures were only considered the primary cause of death on death certificates in 1.5% of sudden deaths. SUDEP cases were more likely to have a history of alcohol abuse. Mental health disorders and a low level of medication compliance and healthcare utilization were common among SUDEP victims.Conclusions. SUDEP accounts for approximately 5.3% of sudden deaths from any cause in individuals aged between 18 and 64. Death certificates underestimate the burden of sudden death in epilepsy, attributing only 1.5% of sudden deaths to seizures or complications of seizures. Accurate documentation of epileptic disorders on death certificates is essential for the surveillance of SUDEP. Further, interventions that promote better use of medical services and patient engagement with healthy living practices may reduce sudden deaths in epilepsy.
A triad of infantile spasms, nystagmus and a focal tonic seizure
Authors: Tarodo Stephanie Garcia , Nguyen Thu , Ranza Emmanuelle , Vulliémoz Serge , Korff Christian M. 
Published: August 2019

ABSTRACTEpileptic spasms represent a subcategory of motor seizures that have been extensively documented and recently re‐classified by the International League Against Epilepsy as either generalized, focal or of unknown onset. Atypical characteristics continue to be reported in case studies, emphasizing the divergent morphological traits and putting into question the underlying aetiopathophysiology. Here, we report the findings of an infant with a triad of clinical manifestations during a single ictal event, comprising a cluster of epileptic spasms, vertical binocular nystagmus, and a focal tonic seizure. A video recording is presented that enabled clinical data to be correlated with EEG modifications. To date, a focal lesion has not been identified on brain imaging. The co‐occurrence of these ictal paroxysms provides insight into the anatomical localization of seizure onset and complex epileptic networks involved, and challenges the pathophysiological hypothesis for epileptic spasms, implicating cortical‐subcortical dysfunction and the implication of structures deep within the sulcus. Furthermore, the focal components both clinically and electrographically implicate involvement of the frontal eye field in the generation of vertical ictal nystagmus. [Published with video sequence on www.epilepticdisorders.com].
Ictal SPECT reveals different epileptogenic zones in frontal lobe epilepsy
Authors: Correia Pedro , Vollmar Christian , Rémi Jan , la Fougere Christian , Noachtar Soheyl 
Published: August 2019

ABSTRACTWe report a patient with frontal lobe epilepsy due to a right frontal astrocytoma (WHO Grade III) in whom two ictal SPECTs (single photon emission tomography) were performed during two seizures with different semiology and different EEG seizure patterns. Subtraction of ictal and interictal SPECT showed right lateral frontal hyperperfusion during a left face clonic seizure, and right mesial fronto‐polar hyperperfusion during a subclinical seizure. This report demonstrates that ictal SPECT may reflect different seizure semiology from the frontal lobe of the same individual and that simultaneous EEG is indispensable for the correct interpretation of SPECT in epilepsy.
Under‐reporting of nocturnal seizures using video‐based home monitoring: a case study on the evaluation of the effect of vagal nerve stimulation
Authors: Peciola Stefano , Himanen Sari‐Leena , Knight Andrew , Dibué‐Adjei Maxine , Rainesalo Sirpa , Peltola Jukka 
Published: August 2019

ABSTRACTA challenge in treating epilepsy is the accurate documentation of seizure frequency, which is needed in order to assess the benefits of ongoing treatment. We present a 17‐year‐old girl who underwent video‐based monitoring in order to establish an accurate seizure count before and after the implantation of a vagus nerve stimulator to treat refractory epilepsy. The results show a reduction in disabling seizure types after vagus nerve stimulator implantation and highlight the inconsistencies between the reported and actual seizure count in this patient. Our case adds to the recognised issue of inaccurate seizure documentation. [Published with video sequence on www.epilepticdisorders.com]