bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between tumour location and preoperative seizure incidence in patients with gliomas: a systematic review and meta‐analysis
Authors: Su Xing , Chen Hong‐Lin , Wang Zhong‐Yong , Lan Qing 
Published: August 2019

AbstractAim. The aim of this meta‐analysis was to assess the relationship between tumour location and preoperative seizure incidence in patients with gliomas.Methods. Systematic computerised searches of PubMed and the Web of Knowledge were performed. The meta‐analysis of pooled odds ratio (OR) and 95% confidence interval (CI) for preoperative seizure risk, stratified by tumour location, were calculated.Results. Eleven studies with 2,047 patients were included for meta‐analysis. For gliomas with or without frontal lobe involvement, the preoperative seizure incidence ranged from 31.7% (19/60) to 85.7% (156/182) and 19.7% (12/61) to 85.7% (12/14), respectively; the pooled OR was 1.560 (95% CI: 1.266–1.923; Z: 4.17; p=0.000). For gliomas with or without temporal lobe involvement, seizure incidence was 22.6% (7/31) to 91.7% (11/12) and 26.7% (24/90) to 78.7% (174/221), respectively; the pooled OR was 1.070 (95% CI: 0.794–1.443; Z: 0.45; p=0.656). For gliomas with or without parietal lobe involvement, seizure incidence was 18.1% (3/16) to 100.0% (3/3) and 26.7% (28/105) to 80.4% (226/281), respectively; the pooled OR was 0.770 (95% CI: 0.570–1.040; Z: 1.71; p=0.088). For gliomas with or without occipital lobe involvement, seizure incidence was 0.0% (0/2) to 100.0% (2/2) and 26.8% (30/112) to 75.7% (56/74), respectively; the pooled OR was 0.336 (95% CI: 0.164–0.686; Z: 2.99; p=0.003). For gliomas with or without insula lobe involvement, seizure incidence was 34.8% (8/23) to 72.0% (77/107) and 34.3% (60/175) to 81.3% (247/304), respectively; the pooled OR was 1.058 (95% CI: 0.765–1.463; Z: 0.34; p=0.732). No significant publication bias was found.Conclusion. Our meta‐analysis indicates that frontal lobe gliomas are related to a higher preoperative seizure incidence, while occipital lobe gliomas are related to a lower incidence.
Response to immunotherapy in a patient with Landau‐Kleffner syndrome and GRIN2A mutation
Authors: Fainberg Nina , Harper Amy , Tchapyjnikov Dmitry , Mikati Mohamad A. 
Published: August 2019

AbstractLandau‐Kleffner syndrome (LKS) has been demonstrated in the past to respond to immunotherapy. Recently, some cases of LKS have been shown to be secondary to glutamate receptor (GRIN2A) mutations. Whether such cases respond to immunotherapy is not known. Here, we present the case of a 3‐year‐old boy with LKS found to have a GRIN2A heterozygous missense mutation, whose clinical symptoms and EEG responded to a course of combination oral steroids and monthly infusions of intravenous immunoglobulin. He then relapsed after discontinuation of this therapy, and responded again after a second course of intravenous immunoglobulin. We conclude that immunotherapy should be considered as a therapeutic option in patients with LKS who are also found to harbour GRIN2A mutations.
Refractory status epilepticus and glutamic acid decarboxylase antibodies in adults: presentation, treatment and outcomes
Authors: Khawaja Ayaz M. , Vines Brannon L. , Miller David W. , Szaflarski Jerzy P. , Amara Amy W. 
Published: August 2019

AbstractAim. Glutamic acid decarboxylase antibodies (GAD‐Abs) have been implicated in refractory epilepsy. The association with refractory status epilepticus in adults has been rarely described. We discuss our experience in managing three adult patients who presented with refractory status epilepticus associated with GAD‐Abs.Methods. Case series with retrospective chart and literature review.Results. Three patients without pre‐existing epilepsy who presented to our institution with generalized seizures between 2013 and 2014 were identified. Seizures proved refractory to first and second‐line therapies and persisted beyond 24 hours. Patient 1 was a 22‐year‐old female who had elevated serum GAD‐Ab titres at 0.49 mmol/l (normal: <0.02) and was treated with multiple immuno‐ and chemotherapies, with eventual partial seizure control. Patient 2 was a 61‐year‐old black female whose serum GAD‐Ab titre was 0.08 mmol/l. EEG showed persistent generalized periodic discharges despite maximized therapy with anticonvulsants but no immunotherapy, resulting in withdrawal of care and discharge to nursing home. Patient 3 was a 50‐year‐old black female whose serum GAD‐Ab titre was 0.08 mmol/l, and was discovered to have pulmonary sarcoidosis. Treatment with steroids and intravenous immunoglobulin resulted in seizure resolution.Conclusion. Due to the responsiveness to immunotherapy, there may be an association between GAD‐Abs and refractory seizures, including refractory status epilepticus. Causation cannot be established since GAD‐Abs may be elevated secondary to concurrent autoimmune diseases or formed de novo in response to GAD antigen exposure by neuronal injury. Based on this report and available literature, there may be a role for immuno‐ and chemotherapy in the management of refractory status epilepticus associated with GAD‐Abs.
Olanzapine‐related repetitive focal seizures with lingual dystonia
Authors: Anzellotti Francesca , Capasso Margherita , Frazzini Valerio , Onofrj Marco 
Published: August 2019

AbstractOlanzapine‐related seizures have rarely been reported despite associated proconvulsant risk factors described in the literature: myoclonic status, increased frequency of seizures, tonic‐clonic seizures, as well as fatal status epilepticus. We present a psychiatric patient who developed repetitive focal motor seizures and lingual dystonia when olanzapine was added for psychomotor agitation and aggressiveness. Olanzapine was immediately suspended and the seizures progressively disappeared. A control EEG showed no paroxysmal discharges. Olanzapine shares some pharmacological similarities with clozapine, a neuroleptic with a high risk of dose‐dependent seizures. This adverse effect should be taken into account, and olanzapine should be used with caution if concomitant circumstances decrease the seizure threshold. [Published with video sequence online]
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy
Authors: Hitomi Takefumi , Kobayashi Katsuya , Sakurai Takeyo , Ueda Sakiho , Jingami Naoto , Kanazawa Kyoko , Matsumoto Riki , Takahashi Ryosuke , Ikeda Akio 
Published: August 2019

AbstractBackground. Brain dysfunction in Japanese benign adult familial myoclonus epilepsy (BAFME) has not been elucidated.Aim. To clarify diffuse brain dysfunction as indicated by posterior dominant rhythm (PDR) slowing in patients with BAFME.Methods. The frequency of PDR on EEG was studied in 19 BAFME patients (50.6±15.7 years) and 38 age‐matched control subjects (50.1±14.5 years). We investigated the relationship between age and PDR in both groups.Results. PDR frequency in the patient group (9.1±0.7 Hz) was significantly slower than that of age‐matched control subjects (10.4±1.1 Hz; p<0.0001), regardless of the use of anticonvulsants. There was no significant difference in PDR slowing with age between groups.Conclusion. These findings suggest that Japanese patients with BAFME have mild diffuse brain dysfunction with minimal progression.
How many adults with temporal epilepsy have a mild course and do not require epilepsy surgery?
Authors: Hernández‐Ronquillo Lizbeth , Buckley Samantha , Ladino Lady Diana , Wu Adam , Moien‐Afshari Farzad , Rizvi Syed AA , Téllez‐Zenteno Jose F. 
Published: August 2019

AbstractAims. Temporal lobe epilepsy (TLE) is the most common type of drug‐resistant epilepsy in adults and commonly requires surgical treatment. While an overwhelming preponderance of literature supports the notion that a large percentage of patients with TLE benefit from surgery, there is a paucity of outcome data on patients who demonstrate a sustained response to pharmacological treatment. In this study, we present an adult cohort of patients with TLE, with the purpose of identifying the proportion of patients with a mild course of the disease, as well as potential risk factors.Methods. A prospective cohort study of all patients with TLE assessed and followed by the Saskatchewan Epilepsy Program, from 1 March 2007 to Jan 29th 2014. Patients were dichotomized as having a mild (seizure freedom without surgical intervention) or severe (surgical intervention required and/or failure to achieve seizure remission) course. Descriptive statistics, odds ratios and confidence intervals were calculated to identify predictors of seizure freedom.Results. The cohort consisted of 159 patients. Mean patient age at last follow‐up visit was 46±14.4 (range: 19–88) years. Mean follow‐up period was 43.4±22.6 (6 to 84) months. Forty‐six patients (29%) demonstrated mild‐course TLE while 113 (71%) had a severe course of TLE. Patients with a mild course of TLE were more likely to be older (p = 0.002), have late‐onset epilepsy (p < 0.001) with shorter evolution (p < 0.001). A good response to the first antiepileptic drug (OR: 6.8; 95% CI: 2.5–19; p < 0.001) was associated with a mild course of TLE.Conclusions. Although a majority of patients with TLE eventually require surgery, operative treatment is not necessary for all patients. This study identifies prognostic factors that may help patients and clinicians characterize long‐term outcome.
Neuronal autoantibodies in patients with Rasmussen's encephalitis
Authors: Samanci Bedia , Tektürk Pınar , Tüzün Erdem , Erdağ Ece , Kınay Demet , Yapıcı Zuhal , Baykan Betül 
Published: August 2019

AbstractAim. Rasmussen's encephalitis (RE) is a rare disease with unknown pathophysiology. To disclose whether anti‐neuronal autoimmunity participates in the aetiology of RE, various neuronal autoantibodies (NAAbs) were investigated in sera of patients with RE and controls.Methods. The study included five patients who fulfilled the RE diagnostic criteria (clinical, EEG, and MRI findings) as the patient group, and 50 multiple sclerosis patients and 50 healthy subjects as the control groups. Sera were evaluated for various NAAbs by radioimmunoassay or cell‐based assays. All sera were also screened for uncharacterized antibodies to neuronal cell surface or synapse antigens by indirect immunofluorescence using hippocampal cell cultures.Results. The mean age at onset of seizures was 8.3±3.4 years (range: 4–13.5) and mean follow‐up time was 11.2±5.4 years (range: 5–19). All patients had unihemispheric atrophy of the cerebral cortex and epilepsia partialis continua. Two of the patients had moderate cognitive impairment, while the others were severely affected, as shown by neuropsychological testing. NAAb positivity was not detected in any of the patients.Conclusion. Immune aetiology is thought to have a role in RE, but the responsible players have not yet been elucidated. Our extensive antibody screening in a small number of patients does not support the presence of antigen‐specific anti‐neuronal autoimmunity in RE pathophysiology.
Epilepsy in KCNH1‐related syndromes
Authors: Mastrangelo Mario , Scheffer Ingrid E. , Bramswig Nuria C. , Nair Lal. D.V. , Myers Candace T. , Dentici Maria Lisa , Korenke Georg C. , Schoch Kelly , Campeau Philippe M. , White Susan M. , Shashi Vandana , Kansagra Sujay , Van Essen Anthonie J. , Leuzzi Vincenzo 
Published: August 2019

AbstractAim. KCNH1 mutations have been identified in patients with Zimmermann‐Laband syndrome and Temple‐Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations.Methods. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres.Results. Epilepsy was present in 7/9 patients. Both generalized and focal tonic‐clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient.Conclusions. Epilepsy is a key phenotypic feature in most individuals with KCNH1‐related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood.
Neurophysiology of myoclonus and progressive myoclonus epilepsies
Authors: Avanzini Giuliano , Shibasaki Hiroshi , Rubboli Guido , Canafoglia Laura , Panzica Ferruccio , Franceschetti Silvana , Hallett Mark 
Published: August 2019

AbstractThe high temporal resolution of neurophysiological recordings makes them particularly suited to faithfully describing the time course of rapid events such as myoclonus and to precisely measure its time relationship with other related activities. In progressive myoclonus epilepsies (PMEs) polygraphy with simultaneous EMG‐EEG recordings is a crucial tool for defining the characteristic of myoclonic jerks their topography over different muscles (namely antagonists), their time course and relationship with vigilance muscle activation and stimulations. Moreover on polygraphic recordings it is possible to detect EEG activities associated to myoclonic jerks and define their time relationship with myoclonus thus differentiating cortical types of myoclonus from subcorticallly generated ones. Tanks to the back averaging technique non obvious time‐locked EEG potentials can be detected on polygraphy, furthermore in stimulus sensitive myoclonus the analysis can include the potential evoked by the somatosensory stimulus (SEP). The polygraphic recording also gives information on muscle activity suppression occurring after jerk or as pure negative myoclonus. Besides the time domain analysis, techniques based on frequency analysis have been developed to evaluate EEG‐EMG coherence. The neurophysiological techniques provide investigators and clinicians with an invaluable information to define the type of myoclonus and its generating circuitry thus substantially contributing in the diagnosis and management of PMEs.
Propagation of seizures in a case of lesional mid‐cingulate gyrus epilepsy studied by stereo‐EEG
Authors: Alkawadri Rafeed , Gonzalez‐Martinez Jorge , Gaspard Nicolas , Alexopoulos Andreas V. 
Published: August 2019

AbstractLittle is known about the propagation of seizures arising from the cingulate gyrus, as cingulate coverage with interhemispheric subdural electrodes is usually challenging and incomplete due to inherent anatomical and vascular limitations. We present a case of lesional mid‐cingulate epilepsy confirmed by stereotactically implanted intracranial depth electrodes and subsequent surgical resection. Hypermotor symptomatology was seen during the first seven seconds of seizure onset while the seizure was still confined to the mid‐cingulate gyrus contacts. The patient had brief contralateral clonic movements as seizure propagated to the primary motor cortex. There was a high concordance between the primary propagation contacts, as delineated by intracranial EEG, and the contacts, with higher coherence values in the connectivity matrix. Interestingly, cingulate‐extra‐cingulate connectivity and spread to the primary motor, premotor, and prefrontal cortex was seen preceding spread to other cingulate contacts, of which one was less than 15 mm from the onset contact. This report is one of a few published, documenting propagation of seizures arising from the mid‐cingulate cortex. As illustrated by these data, hypermotor semiology correlated with direct activation of the cingulate cortex. Subsequent seizure propagation activated an extensive extra‐cingulate rather than an intra‐cingulate epileptogenic network. Interestingly, had the region of onset not sampled, the seizure onset would have appeared as non‐localizing widespread rhythms over the fronto‐parietal convexities. Further studies to explore the propagation of seizures arising from the cingulate gyrus and the physiological and pathological connectivity patterns within the cingulate gyrus in humans are needed, preferably using stereotactic implantation. Specific targets to be investigated are also discussed.
GNAO1‐associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype
Authors: Arya Ravindra , Spaeth Christine , Gilbert Donald L. , Leach James L. , Holland Katherine D. 
Published: August 2019

AbstractWe describe a case of GNAO1‐associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2‐years‐old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized‐onset seizures. Genetic testing found a de novo pathogenic variant in the GNAO1 gene (c.607G>A; p.Gly203Arg). A review of the literature showed two other patients with similar phenotype and the same genetic variant. In contrast, other patients with neurological involvement had private mutations in the GNAO1 gene. The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. [Published with video sequence on www.epilepticdisorders.com]
Sudden unexpected death in epilepsy (SUDEP): what every neurologist should know
Authors: Shankar Rohit , Donner Elizabeth J. , McLean Brendan , Nashef Lina , Tomson Torbjörn 
Published: August 2019

AbstractThis review aims to empower general neurologists to provide better informed person‐centred advice on sudden unexpected death in epilepsy (SUDEP) to people with epilepsy in order to help keep them safe. Past and present evidence is consolidated in order to inform readers about SUDEP, and up‐to‐date insights into the epidemiology, diagnostic classification, pathophysiology, risk factors, influence of co‐morbidity, and importance of sensitive person‐centred communication are outlined. This review provides “fingertip” information to the practicing neurologist with regards to identifying and communicating risks for SUDEP and suggests practical measures for managing these risks in partnership with the patient.
Managing Lafora body disease with vagal nerve stimulation
Authors: Mikati Mohamad A. , Tabbara Faysal 
Published: August 2019

AbstractA 17‐year‐old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic‐clonic seizures, all of which were drug resistant. The diagnosis of Lafora body disease was made based on a compatible clinical, EEG, seizure semiology picture and a disease‐causing homozygous mutation in the EPM2A gene. A vagus nerve stimulator (VNS) was inserted and well tolerated with a steady decrease and then stabilization in seizure frequency during the six months following insertion (months 1–6). At follow‐up, at 12 months after VNS insertion, there was a persistent improvement. Seizure frequency during months 7–12, compared to pre‐VNS, was documented as follows: the absence seizures observed by the family had decreased from four episodes per month to 0 per month, the focal dyscognitive seizures from 300 episodes per month to 90 per month, the generalized myoclonic seizures from 90 clusters per month to eight per month, and the generalized tonic‐clonic seizures from 30 episodes per month to 1.5 per month on average. To our knowledge, this is the second case reported in the literature showing efficacy of VNS in the management of seizures in Lafora body disease.
Hemispheric polymicrogyria and neonatal seizures: a potentially life‐threatening combination
Authors: Brna Paula M. , Harvey A. Simon , Leventer Richard J. 
Published: August 2019

AbstractPolymicrogyria (PMG) is a heterogeneous malformation of cortical development characterized by excessive gyration and abnormal cortical lamination. Typically, bilateral forms have more severe developmental delay and early‐onset epilepsy, but the full spectrum of severity remains ill‐defined. We report two cases of right hemispheric PMG and neonatal‐onset, drug‐resistant seizures culminating in early death. Case 1 began having seizures on Day 1 of life that intensified in severity and proved resistant to numerous antiepileptic drugs. He underwent right functional hemispherectomy but died three weeks post‐operatively due to ongoing seizures. Case 2 presented with seizures on Day 3 of life and required respiratory support for prolonged ictal apnoeas. Seizures were resistant to antiepileptic drugs and eventually led to respiratory arrest, once aggressive resuscitative measures were withdrawn. In both cases, seizures seemingly originated independently in both hemispheres. These cases represent a severe phenotype of unilateral hemispheric PMG with bilateral seizures.
Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid
Authors: Matsuura Ryuki , Hamano Shin‐ichiro , Ikemoto Satoru , Hirata Yuko , Suzuki Kotoko , Kikuchi Kenjiro , Takahashi Yukitoshi 
Published: August 2019

AbstractA 3‐year‐old boy with normal development presented with acute cerebellitis at one year and 10 months of age. His truncal ataxia resolved without treatment. He experienced a relapse of truncal ataxia and atonic seizures at 2 years and one month of age. Five months later, he experienced myoclonic atonic seizures. By 3 years of age, the truncal ataxia had become severe, and the frequency of myoclonic atonic seizures increased. Compared to controls, we found higher levels of anti‐C‐terminal GluN2B and anti‐N terminal GluD2 antibodies in the serum, and anti‐N terminal GluN2B and anti‐C terminal GluD2 antibodies in the cerebrospinal fluid (CSF). A cell‐based assay revealed the presence of anti‐NMDA‐type glutamate receptor antibody in the serum, but absence in the CSF. Ictal EEG of myoclonic atonic seizures showed generalized spike and wave complexes. The patient was diagnosed with myoclonic atonic epilepsy. Adrenocorticotrophic hormone therapy resolved the truncal ataxia and myoclonic atonic seizures, along with the decreased serum anti‐C‐terminal GluN2B and anti‐N‐terminal GluD2 antibodies, and CSF anti‐N‐terminal GluN2B and anti‐C‐terminal anti‐GluD2 antibodies. Our results suggest that the anti‐GluN2B and anti‐GluD2 antibodies may be associated with myoclonic atonic epileptic seizures and chronic cerebellitis.