bluuebunny/crossref_metadata_2025_split huggingface dataset:
“Benign” myoclonic epilepsy of infancy as the initial presentation of glucose transporter‐1 deficiency
Authors: Gaspard Nicolas , Suls Arvid , Vilain Catheline , De Jonghe Peter , Van Bogaert Patrick 
Published: August 2019

ABSTRACTWe report the case of a young boy carrying a de novo missense mutation (c.1199G>T; p.R400L) in the SLC2A1 gene who presented initially with benign myoclonic epilepsy of infancy. Eventually, he had a poor outcome with refractory generalised tonic‐clonic, myoclonic and absence seizures, ataxia, significant mental impairment and slowing of head growth. He responded poorly to ketogenic diet. This case extends the phenotype of GLUT1‐related syndromes and also sheds light on the genetic basis of myoclonic epilepsies of infancy suggesting that variable outcome may depend on genetic factors. [Published with video sequences]
Dravet syndrome with an exceptionally good seizure outcome in two adolescents
Authors: Kobayashi Katsuhiro , Ohmori Iori , Ouchida Mamoru , Ohtsuka Yoko 
Published: August 2019

ABSTRACTWe present two children who exhibited the characteristics of Dravet syndrome during infancy and young childhood, with SCN1A mutation, but nevertheless achieved seizure freedom for at least four years during adolescence. These patients had no episodes of convulsive status epilepticus with a duration of more than 30 minutes and their overall favourable seizure outcome may be related to the prevention of convulsive status epilepticus.
Atypical presentation in Rasmussen encephalitis: delayed late‐onset periodic epileptic spasms
Authors: Ferrari Taíssa P.F. , Hamad Ana P.A. , Caboclo Luís Otávio S.F. , Centeno Ricardo S. , Zaninotto Ana Luiza , Scattolin Monica , Junior Henrique Carrete , Lancellotti Carmem L.P. , Yacubian Elza Márcia T. 
Published: August 2019

ABSTRACTA five‐and‐a‐half‐year‐old girl started experiencing progressive left hemiparesis at age two and a half years. At age five years and four months she started presenting clusters of asymmetric periodic epileptic spasms with no hypsarrhythmia. The ictal EEG showed periodic, constant and stereotyped complexes. Serial brain imaging revealed progressive atrophy of the right hemisphere with increased T2 signal on MRI. She underwent a right hemispherotomy, and histological examination showed signs of inflammation and features of focal cortical dysplasia (FCD). She has been seizure‐free for 16 months. This case is unique in the following aspects: the presence of typical Rasmussen encephalitis features of progressive unilateral brain involvement without seizures, a delay of almost three years prior to seizure onset; an atypical seizure type presentation with periodic epileptic spasms and the presence of FCD associated with inflammatory changes. [Published with video sequences]
A new form of alpha‐dystroglycanopathy associated with severe drug‐resistant epilepsy and unusual EEG features
Authors: Di Rosa Gabriella , Messina Sonia , D'Amico Adele , Bertini Enrico , Pustorino Giuseppina , Spanò Maria , Tortorella Gaetano 
Published: August 2019

ABSTRACTWe describe two unrelated girls with congenital muscular dystrophy associated with alpha‐dystroglycan deficit with no identified genetic defect, both presenting severe drug‐resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker‐Warburg, Fukuyama and muscle‐eye‐brain diseases. [Published with video sequences]
Vagus nerve stimulation: effectiveness and tolerability in 64 paediatric patients with refractory epilepsies
Authors: Cersósimo Ricardo O , Bartuluchi Marcelo , Fortini Sebastian , Soraru Alejandra , Pomata Hugo , Caraballo Roberto H 
Published: August 2019

ABSTRACTAimWe discuss the effectiveness, tolerability, and safety of vagus nerve stimulation (VNS) as adjunctive therapy in 64 paediatric patients with refractory epilepsies.Materials and methodsSixty‐four patients (34 male and 30 female) implanted with VNS for refractory epilepsy were analysed. Electroclinical features were compatible with Lennox‐Gastaut syndrome in 46 patients, focal epilepsies in 10 patients, Dravet syndrome in three patients, epilepsy with myoclonic‐astatic seizures in three patients, and West syndrome in two. The NeuroCybernetic Prosthesis (NCP) system (Cyberonics, Webster, TX, USA) was employed and the following stimulation parameters were used: output current of 1 to 2.5mA, signal frequency of 30Hz, signal pulse width of 500μs, and signal “on” and “off” times of 30 seconds and 5 minutes, respectively.ResultsOf 46 patients with LGS, 30 cases showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. Ten patients with focal epilepsy, three patients with myoclonic‐astatic seizures, two patients with Dravet, and two patients with West showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. A good clinical response was evident early and efficacy progressively improved with the duration of treatment up to 36 months. In a significant number of patients, reduced seizure severity and shorter recovery time and hospital stay were also observed. VNS was well tolerated in all patients.ConclusionVNS is an effective and well‐tolerated treatment for paediatric patients with refractory epilepsies, improving quality of life and neuropsychological performance.
Seizure‐related adverse events during video‐electroencephalography monitoring
Authors: Liu Jianming , Meng Fanxin , Liu Zhiliang 
Published: August 2019

ABSTRACTAim. The aim of this study was to characterise seizure‐related adverse events during video‐electroencephalography (vEEG) monitoring. Methods. Our study evaluated adverse events in 230 epilepsy patients during vEEG monitoring while patients were awake and asleep. Results. A total of 588 seizures were recorded and 231 adverse events were identified including electrode displacement (14.5%), aspiration risk (8.5%), urinary incontinence (7.5%), postictal psychosis (5.8%), tongue biting (5.3%), and patient falls (0.5%). No severe types of adverse events were observed, such as choking or aspiration pneumonia. Of the seizures recorded, 39.1% occurred while patients were sleeping and 38.5% of adverse events occurred during this time, which included electrode displacement (48.2%), aspiration risk (28.0%), tongue biting (60.0%), postictal psychosis (16.7%), patient falls (66.7%), and urinary incontinence (38.6%). Conclusion. The occurrence of seizure‐related adverse events during vEEG monitoring is mild. vEEG is an acceptably safe procedure for epilepsy research and precautions should be put in place to prevent these events.
Are proprioceptive‐induced reflex seizures epileptically‐enhanced stretch reflex manifestations?
Authors: Szúcs Anna , Rásonyi György , Orbay Péter , Sólyom András , Holló András , Arányi Zsuzsanna , Janszky József , Erőss Lóránd , Kamondi Anita 
Published: August 2019

ABSTRACTIn reflex seizures induced by proprioceptive stimuli, the activated network may be identified as a single anatomo‐functional circuit; the sensory‐motor network. These seizures may be considered as epileptically‐enhanced stretch reflexes. Proprioceptive reflex epilepsies are a good example of the so‐called “system epilepsies”. We present three cases discussing the clinical features of such epilepsies. [Published with videosequences]
Involuntary movements after correction of vitamin B12 deficiency: a video‐case report
Authors: Zanus Caterina , Alberini Elena , Costa Paola , Colonna Franco , Zennaro Floriana , Carrozzi Marco 
Published: August 2019

ABSTRACTInvoluntary movements can appear before and after initiation of vitamin B12 treatment. The pathogenesis of involuntary movements in vitamin B12 deficiency and their relationship with cobalamin injection remain unclear due to a lack of video‐EEG documentation making the electroclinical correlation difficult to ascertain. Here, we report video‐EEG and neuroimaging findings of an 11‐month‐old girl with vitamin B12 deficiency, who acutely developed involuntary movements a few days after initiation of vitamin B12 treatment with normal vitamin plasmatic levels. Abnormal movements were a combination of tremor and myoclonus involving the face, mouth, and left arm, which disappeared after discontinuation of therapy. [Published with video sequences]
What clinical trial designs have been used to test antiepileptic drugs and do we need to change them?*
Authors: Perucca Emilio 
Published: August 2019

ABSTRACTDesigns used to evaluate the efficacy and safety of antiepileptic drugs (AEDs) have evolved considerably over the years. A major impulse to develop methodologically sound randomised controlled trials dates back to the Kefauver‐Harris Drug Amendment of 1962, through which the US congress introduced the requirement of substantial evidence for proof of efficacy in a new drug application. The mainstay for the initial approval of most new AEDs has been, and still is, the placebo‐controlled adjunctive therapy trial, which evolved over the years from the cross‐over to the parallel‐group design. In the early days, when few AEDs were available, enrolment of patients into these trials was relatively easy and prolonged placebo exposure could be justified by lack of alternative treatment options. With more than 20 drugs now available to treat epilepsy, however, exposing patients to placebo or to a potentially ineffective investigational agent faces practical and ethical concerns. Recruitment difficulties have led sponsors to markedly increase the number of trial sites, but there is evidence that this may adversely affect the ability to differentiate between effective and ineffective treatments. Methodological and practical difficulties are also encountered with monotherapy trials. Because regulatory guidelines for monotherapy approval differ between Europe and the US, sponsors need to pursue separate and costly development programs on the two sides of the Atlantic. Moreover, the scientific validity of the monotherapy trial paradigms currently used in Europe (the non‐inferiority design) and in the US (the conversion to monotherapy design with historical controls) has been questioned. This article will review these issues in some detail and discuss how trial designs and regulatory approval processes may evolve in the future to address these concerns.
Surgical control of limbic encephalitis associated with LGI1 antibodies
Authors: Almeida Vânia , Pimentel José , Campos Alexandre , Bentes Carla , Maruta Carolina , Morgado Carlos , Martins Isabel Pavão 
Published: August 2019

ABSTRACTLimbic encephalitis with LGI1 antibodies may cause drugresistant temporal lobe epilepsy. We report a case of a young man with progressive drug‐resistant focal epilepsy, hyperhidrosis, and memory impairment associated with a left mesial temporal lesion. Epilepsy surgery was performed with the provisional diagnosis of cortical dysplasia or tumour. A neuropathological study following amygdalohippocampectomy revealed limbic encephalitis and LGI1 antibodies were identified in the serum. Two and a half years after surgery, the patient remains seizurefree without medication, with normal memory and without hyperhidrosis. Although immunosuppression is the first‐line therapy for autoimmune limbic encephalitis, this case suggests that, in selected cases, a lasting response can be achieved with surgery.
Cryptogenic West syndrome and subsequent mesial temporal lobe epilepsy
Authors: Agari Takashi , Kobayashi Katsuhiro , Watanabe Kiyoko , Date Isao , Ohtsuka Yoko 
Published: August 2019

ABSTRACTWe report on a male patient who experienced a previously unreported sequence of cryptogenic West syndrome in infancy and subsequent mesial temporal lobe epilepsy. His complex partial seizures were consistently characterised by motionless staring with brief right eye blinking. Scalp electroencephalography (EEG) showed bilateral temporal spikes which were dominant on the right side. Magnetic resonance imaging (MRI) revealed no organic brain lesion. Invasive EEG recording captured seizures with right hippocampal onset. The patient became seizure‐free following right temporal lobectomy at 27 years, 8 months of age. Pathological examination of the resected specimen revealed corpora amylacea and gliosis in the temporal cortex but no clear findings of hippocampal sclerosis. It is suggested that an epileptogenic lesion causing MRI‐negative mesial temporal lobe epilepsy may give rise to apparent cryptogenic West syndrome in infancy.
Epileptic seizures provoked by bathing with water at room temperature
Authors: Kravljanac Ruzica , Djuric Milena , Milovanovic Maja , Radivojevic Vlada 
Published: August 2019

ABSTRACTWe report two Caucasian boys with seizures induced by bathing in lukewarm water. Different mechanisms of provocation were observed; in one boy a complex partial seizure was provoked by pouring water over the body, while in the other boy, a complex partial seizure with secondary generalisation was provoked by immersion. Since the water was not hot in either of the cases, the pathophysiological mechanism was not clear and the seizures could not be explained as hyperthermic‐related events. We suggest that in the ILAE classification of epilepsies and epileptic seizures, bathing epilepsy should be added as a separate category, distinct from “hot‐water epilepsy”. [Published with video sequences]
Late‐onset epileptic spasms may be cured by focal cortical resective surgery
Authors: Ricard‐Mousnier Brigitte , Dorfmuller Georg , Fohlen Martine , Jeanguillaume Christine , Nguyen Silvie , Delalande Olivier , Bulteau Christine 
Published: August 2019

ABSTRACTWe report the case of a child with isolated late‐onset epileptic spasms who significantly improved after focal frontal cortectomy. Clusters of axial and limb tonic contractions with head nodding began at 2 years of age. They occurred only during sleep, lasting 15 to 20 minutes and were pharmacoresistant. The child suffered slight mental delay. Interictal EEG showed left frontal spikes in slow sleep. Ictal video‐EEG showed patterns of asymmetric spasms. MRI revealed a distinct white matter abnormality in the left frontal superior gyrus, corresponding clearly to localised cortical hypometabolism on FDG‐PET and PET‐MRI co‐recording. SEEG investigation showed that the first spasm of the clusters corresponded to a localised discharge of rapid rhythms from the electrodes placed within the area identified as a lesion by MRI. Discharges then became more diffuse across the left frontal and temporal electrodes throughout the duration of the cluster. A tailored focal frontal resection was performed at 16 years of age. Spasms were very rare during the following three years (Engel class II). This observation illustrates the fact that isolated epileptic spasms can be cured by focal cortical resection despite a lack of clearly localised EEG surface anomalies. [Published with video sequences]
Animal models to study aetiopathology of epilepsy: what are the features to model?*
Authors: Guillemain Isabelle , Kahane Philippe , Depaulis Antoine 
Published: August 2019

ABSTRACTIn order to understand the physiopathology of epilepsies and develop antiepileptic drugs, animal models have been developed. These models appear to be valuable predictors of treatment efficacy; however, several of the currently used models remain questionable and probably inappropriate for the search for new treatments, in particular for epilepsies that cannot be treated by current antiepileptic drugs. In the present review, we report the results of a recent survey conducted by neurologists in charge of an epilepsy programme based at different hospitals in France. The 36 experts were questioned, via the internet, on the most critical features of four prototypic forms of epilepsy (idiopathic generalised epilepsies with convulsive seizures, absence epilepsy, focal epilepsy associated with dysplasia, and focal epilepsy associated with hippocampal sclerosis) that should be taken into account with regards to the relevance of animal models of epilepsy. Their answers suggest that most current models for focal epilepsies associated with either dysplasia or hippocampal sclerosis do not address the most relevant features. The models currently used in mice and rats are discussed in light of the data obtained in our survey.
Ambulatory EEG: a cost‐effective alternative to inpatient video‐EEG in adult patients
Authors: Dash Dianne , Hernandez‐Ronquillo Lizbeth , Moien‐Afshari Farzad , Tellez‐Zenteno Jose F. 
Published: August 2019

ABSTRACTIntroductionAmbulatory electroencephalography (AEEG) is a monitoring technique that allows the recording of continuous EEG activity when patients are at home, without the necessity of admission to the hospital for prolonged video‐EEG monitoring.MethodsThis is a prospective cohort study performed in a Canadian academic centre in order to assess the yield and tolerability of AEEG in the adult population. Over a period of three years, 101 patients were included. The yield of AEEG was assessed by taking into account the questions asked by the clinician before and after the investigation.ResultsOne hundred and one patients undergoing AEEG were prospectively recruited during a three‐year‐period. Our population consisted of 45 males (44.6%) and 56 females (55.4%). The mean age of the group was 36.6±16.1 years. Most of the patients had at least one previous routine EEG (93%). The primary reasons for the AEEGs were subdivided into four categories: a) to differentiate between seizures and non‐epileptic events; b) to determine the frequency of seizures and epileptiform discharges; c) to characterize seizure type or localization; and d) to potentially diagnose epilepsy. The mean duration of AEEG recording was 32±17 hours (15‐96 hours). For 73 (72%) patients, the AEEG provided information that was useful for the management. For 28 (28%) patients, the AEEG did not provide information on diagnosis because no events or epileptiform activity occurred. In only 1 patient was the AEEG inconclusive due to non‐physiological artefacts. Three patients were referred for epilepsy surgery without the necessity of video‐EEG telemetry.ConclusionIn this study, we found that AEEG has a high diagnostic yield (72%) and believe that careful selection of patients is the most important factor for a high diagnostic yield. The main use of AEEG is the characterization of patients with non‐epileptic events, in patients with a diagnosis of epilepsy that is not clear, and quantification of spikes and seizures to improve the medical management. Ambulatory EEG is a cost‐effective solution for increasing demands for in‐hospital video‐EEG monitoring of adult patients.
Vivid recollection of a past traumatic event: a rare manifestation of temporal lobe seizures
Authors: Koubeissi Mohamad Z. 
Published: August 2019

ABSTRACTVivid recollection of a particular past memory is a rare ictal phenomenon in temporal lobe epilepsy. When the memory is traumatic, the presentation may mimic post‐traumatic stress disorder (PTSD). We report a woman with temporal lobe epilepsy who was misdiagnosed with posttraumatic stress disorder for two years before she had a suspected generalised seizure; video‐EEG monitoring confirmed that her episodes were epileptic. Adequate treatment with an antiepileptic medication resulted in total resolution of the episodes.
Near‐infrared spectroscopy shows preictal haemodynamic changes in temporal lobe epilepsy
Authors: Slone Edward , Westwood Erica , Dhaliwal Harinder , Federico Paolo , Dunn Jeff F 
Published: August 2019

ABSTRACTAimGrowing evidence suggests that focal seizures are preceded by haemodynamic changes. Specifically, changes in cerebral blood flow, blood oxygen level‐dependent magnetic resonance imaging, and near‐infrared spectroscopy measurements of haemoglobin have been observed in the seizure focus and other brain regions many minutes prior to the onset of spontaneous seizures. The purpose of this study was to detect preictal haemodynamic changes using near‐infrared spectroscopy, a portable and non‐invasive optical technique that measures changes in cerebral haemoglobin.MethodsFive subjects with temporal lobe seizures were studied using near‐infrared spectroscopy until a seizure was observed, as confirmed by electroencephalography or clinical symptoms. Relative changes in oxy‐ and deoxyhaemoglobin, total haemoglobin, and blood oxygen saturation were assessed in the anterior frontal lobes between 15 minutes and one minute prior to seizure onset.ResultsIn all subjects, a decrease in oxyhaemoglobin, total haemoglobin, and oxygen saturation was observed in the frontal lobe, ipsilateral to the presumed seizure focus. On the contralateral side, all subjects showed a decrease in relative oxyhaemoglobin content. No consistent change in deoxyhaemoglobin was seen on either side.ConclusionsPreictal haemodynamic changes can be detected in the frontal lobes using near‐infrared spectroscopy. Our results suggest that a decrease in metabolic rate, and thus neuronal activity, occurs in the ipsilateral frontal lobe prior to the onset of temporal lobe seizures. Extratemporal haemodynamic changes may therefore be an important marker for seizure anticipation.
Eating‐induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies
Authors: de Palma Luca , Boniver Clementina , Cassina Matteo , Toldo Irene , Nosadini Margherita , Clementi Maurizio , Sartori Stefano 
Published: August 2019

ABSTRACTDuplication of MECP2 causes a recently described X‐linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity. Recently, the associated seizure semiology and interictal EEG features have been increasingly described, whereas ictal electroclinical features remain poorly defined. We report the case of a boy carrying a maternally‐inherited MECP2 duplication and describe the video‐EEG sequence of a cluster of eating‐induced spasms, the only epileptic manifestation of the patient. This report expands our knowledge of the epileptic phenotype of MECP2 duplication syndrome and may contribute to a better definition and comprehension of the electroclinical spectrum of patients affected by this disease. It also supports the hypothesis that in some genetic epilepsies, the electro‐clinical profile can correlate with the dysfunction of limited cortical regions despite the presence of a genetic mutation over the entire brain. [Published with video sequences]