140,897 results match your criteria Epilepsy Research[Journal]


The T-type calcium channel antagonist, Z944, alters social behavior in Genetic Absence Epilepsy Rats from Strasbourg.

Behav Brain Res 2018 Dec 11. Epub 2018 Dec 11.

University of Saskatchewan, Department of Physiology, Saskatoon, SK, Canada.

Abnormalities in social behavior are a co-morbid symptom of idiopathic generalized epilepsies such as childhood absence epilepsy. The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model is a spontaneously occurring absence epilepsy phenotype closely correlated to that of human absence epilepsies. Similar to the human conditions, GAERS display social abnormalities. Read More

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December 2018

Clinicopathological and molecular analysis of multinodular and vacuolating neuronal tumors of the cerebrum.

Hum Pathol 2018 Dec 11. Epub 2018 Dec 11.

Department of Pathology, Seoul National University Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea; Institute of Neuroscience, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:

Multinodular and vacuolating neuronal tumor (MVNT) of the cerebrum is a recently recognized rare neuronal tumor, and its pathogenesis is unclear. We analyzed 7 cases of histologically typical MVNT: six were adults [mean age: 43.0years (range: 23-56)] and one was a child (10-year-old). Read More

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December 2018

Generalized Periodic Discharges With and Without Triphasic Morphology.

J Clin Neurophysiol 2018 Dec 12. Epub 2018 Dec 12.

Department of Neurology, Comprehensive Epilepsy Center, Yale University School of Medicine, New Haven, Connecticut, U.S.A.

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December 2018

Technique of Fractionated Transcatheter Arterial Embolization for Treating Large Arteriovenous Malformation in Brain Functional Area.

J Craniofac Surg 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing.

Objective: At present, large cranial function area arteriovenous malformation (fAVM) is mainly treated by craniotomy with a high risk of operation and high disability. In recent years, with the continuous improvement of the neural intervention technology, fractionated transcatheter arterial embolization (fTAE) may be used to treat the fAVM instead of surgical treatment. However, its effectiveness for treating fAVM has never been explored. Read More

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December 2018

Autostimulation in Vagus Nerve Stimulator Treatment: Modulating Neuromodulation.

Neuromodulation 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurosciences and Rehabilitation, Tampere University Hospital, Tampere, Finland.

Objectives: Until now, the vagus nerve stimulation (VNS) treatment in epilepsy has consisted of two different modes: normal and magnet stimulation. A new vagus nerve stimulator model (106 AspireSR®, LivaNova, Houston, TX, USA) also allows automatic stimulation (AutoStim). The purpose of this study is to examine the effect of autostimulation on seizure frequencies together with energy consumption. Read More

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December 2018

Prenatal ultrasound signs of diencephalic mesencephalic junction (DMJ) dysplasia.

Authors:
Nupur Shah

Ultrasound Obstet Gynecol 2018 Dec 13. Epub 2018 Dec 13.

Fetal Medicine Department, Zydus hospital, Ahmedabad, India.

Diencephalic mesencephalic junction (DMJ) dysplasia is a rare malformation characterized by ill -defined junction of the diencephalon and mesencephalon and clinical features of spastic-dystonic tetraparesis, hypothalamic dysfunction, epilepsy, and developmental delay(1). This article is protected by copyright. All rights reserved. Read More

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December 2018

Alternating hemiplegia of childhood: the gap between paroxysmal manifestations and non-paroxysmal characteristics.

Dev Med Child Neurol 2018 Dec 13. Epub 2018 Dec 13.

Hôpital Femme Mère Enfant - Epilepsy, Sleep and Pediatric Neurophysiology Unit, Bron, France.

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December 2018

Sensory coding is impaired in rat absence epilepsy.

J Physiol 2018 Dec 13. Epub 2018 Dec 13.

Univ. Grenoble Alpes, Grenoble Institut des Neurosciences, GIN, F-38000, Grenoble, France.

Key Points: Absence epilepsy is characterized by the occurrence of spike-and-wave discharges concomitant with an alteration of consciousness and associated with cognitive comorbidities. In a genetic model of absence epilepsy in the rat, the GAERS, we showed that spike-and-wave discharges are initiated in the barrel field primary somatosensory cortex that codes whisker-related information therefore playing an essential role in rodents' interactions with their environment. Sensory-information processing is impaired in the epileptic barrel field primary somatosensory cortex of GAERS with a delayed sensory-evoked potential and a duplicated neuronal response to whisker-stimulation in in vivo extracellular recordings. Read More

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December 2018

Health-related stigma of noncommunicable neurological disease in rural adult populations: A scoping review.

Health Soc Care Community 2018 Dec 12. Epub 2018 Dec 12.

Canadian Centre for Health and Safety in Agriculture, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

Stigma is a widely recognised public health issue. Many people with neurological disease and their families experience stigmatisation, adding to their burden of illness. Rural populations are typically small, lack anonymity, and often have a higher proportion of older adults with inadequate access to specialised services and resources. Read More

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December 2018

Suppression of microRNA-141 suppressed p53 to protect against neural apoptosis in epilepsy by SIRT1 expression.

J Cell Biochem 2018 Dec 12. Epub 2018 Dec 12.

Department of Neurology, XThe Third Xiangya Hospital of Central South University, Changsha, Hunan, China.

We investigated that microRNA (miRNA)-141 protects against epilepsy-induced apoptosis and its reaction mechanism. The serum expression of miRNA-141 in epilepsy model mice and control volunteer was measured by quantitative reverse-transcription polymerase chain reaction. We found that miRNA-141 serum expression was upregulated in patients with epilepsy. Read More

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December 2018

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 Dec 11. Epub 2018 Dec 11.

Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.

We describe two unrelated children with de novo variants in the non-erythrocytic alpha-II-spectrin (SPTAN1) gene who have hypoplastic brain structures, intellectual disability, and both fine and gross motor impairments. Using agnostic exome sequencing, we identified a nonsense variant creating a premature stop codon in exon 21 of SPTAN1, and in a second patient we identified an intronic substitution in SPTAN1 prior to exon 50 creating a new donor acceptor site. Neither of these variants has been described previously. Read More

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December 2018

[Christmas article. The influence of lunar phases on epilectic seizures].

Ugeskr Laeger 2018 Dec;180(50)

An old myth asserts, that the lunar phases influence epileptic seizures. This Christmas article examines the assertion by reviewing four articles about the correlation between the lunar phases and the frequency of seizures in patients with epilepsy and in patients with non-epileptic seizures. Hypotheses suggest, that sleep disturbances, melatonin level and nocturnal illumination may play a role in the relation between lunar phases and epileptic seizures. Read More

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December 2018

Epilepsy in Irish psychiatric inpatient settings

Ir Med J 2018 09 10;111(8):809. Epub 2018 Sep 10.

Department of Psychiatry, University of Limerick, Ireland

Aims To ascertain epilepsy prevalence in Irish psychiatric inpatient units and compliance with care planning guidelines. Methods Case records were reviewed in seven psychiatric inpatient units. Results The prevalence of epilepsy across seven psychiatric inpatient units (n=9/267) was three times that of general population estimates. Read More

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September 2018

A review of filamin A mutations and associated interstitial lung disease.

Eur J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Clinical Genetics Department, Our Lady's Children's Hospital, Dublin, Ireland.

The filamin A gene (FLNA) on Xq28 encodes the filamin A protein. Mutation in FLNA causes a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, intellectual disability and intestinal obstruction. Recently, childhood-onset interstitial lung disease associated with a range of FLNA mutations has been recognised and reported. Read More

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December 2018
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Evaluating layered stigma from comorbid HIV and epilepsy among Zambian adults.

eNeurologicalSci 2018 Dec 21;13:56-62. Epub 2017 Dec 21.

Strong Epilepsy Center, Department of Neurology, University of Rochester, 265 Crittenden Blvd, CU420694, Rochester, NY 14642, USA.

Background And Purpose: Stigma hinders care for patients with neurologic illness. Layered stigma due to comorbid disease is common yet poorly characterized due to lack of instruments. Epilepsy and HIV are prototypical stigmatized conditions widespread in sub-Saharan Africa. Read More

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December 2018
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Utility of Magnetic Resonance Imaging Brain Epilepsy Protocol in New-Onset Seizures: How is it Different in Developing Countries?

J Clin Imaging Sci 2018 15;8:43. Epub 2018 Nov 15.

Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences, Bengaluru, Karnataka, India.

Introduction: Magnetic resonance imaging (MRI) is the current imaging tool of choice in the investigation of patients with seizures. The advent of high-resolution MRI with a dedicated seizure protocol has significantly increased the chances of identifying a cause, resulting in a positive clinical impact on the management of these patients.

Aims: The aims of this study were to evaluate the diagnostic efficacy of standard MRI, identify whether there is an increase in the diagnostic yield with the addition of dedicated seizure protocol, and compare the diagnostic yields of MRI and electroencephalogram (EEG) individually and in combination. Read More

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November 2018

Epigenetic modulation during hippocampal development.

Biomed Rep 2018 Dec 18;9(6):463-473. Epub 2018 Oct 18.

Department of Pharmacology, Medical School of Yangtze University, Jingzhou, Hubei 434023, P.R. China.

The hippocampus is located in the limbic system and is vital in learning ability, memory formation and emotion regulation, and is associated with depression, epilepsy and mental retardation in an abnormal developmental situation. Several factors have been found to modulate the development of the hippocampus, and epigenetic modification have a crucial effect in this progress. The present review summarizes the epigenetic modifications, including DNA methylation, histone acetylation, and non-coding RNAs, regulating all stages of hippocampal development, focusing on the growth of Ammons horn and the dentate gyrus in humans and rodents. Read More

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December 2018

Surgical strategy for temporal lobe epilepsy with dual pathology and incomplete evidence from EEG and neuroimaging.

Exp Ther Med 2018 Dec 19;16(6):4886-4892. Epub 2018 Sep 19.

Department of Neurosurgery, The Second Hospital of Dalian Medical University, Dalian, Liaoning 116000, P.R. China.

Coexistence of hippocampal sclerosis (HS) and a temporal neocortical lesion, including focal cortical dysplasia, vascular malformations or benign primary brain tumors, is defined as dual pathology. In the majority of cases, the complete evidence based on electroencephalogram (EEG) and magnetic resonance imaging (MRI) for each of the dual pathological lesions is difficult to obtain. As a result, patients with dual pathology are poor surgical candidates due to potential incomplete resection of the epileptogenic zone. Read More

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December 2018

p53-Sensitive Epileptic Behavior and Inflammation in Hypomorphic Mice.

Front Genet 2018 27;9:581. Epub 2018 Nov 27.

Department of Biology and Biotechnology, Sapienza University of Rome, Rome, Italy.

Epilepsy is a complex clinical condition characterized by repeated spontaneous seizures. Seizures have been linked to multiple drivers including DNA damage accumulation. Investigation of epilepsy physiopathology in humans imposes ethical and practical limitations, for this reason model systems are mostly preferred. Read More

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November 2018

Carnitine deficiency in epileptic children treated with a diversity of anti-epileptic regimens.

Egypt J Neurol Psychiatr Neurosurg 2018 21;54(1):37. Epub 2018 Nov 21.

Faculty of Medicine, Fayoum University, Fayoum City, 63611 Egypt.

Background: Carnitine deficiency is relatively common in epileptic patients. The risk factors reported include the combination of valproic acid with other antiepileptic drugs (AEDs), young age, multiple neurologic disabilities, non-ambulatory status, and being underweight.

Objectives: To study the level of carnitine deficiency and its associated risk factors among a group of children with idiopathic epilepsy treated with different AEDs. Read More

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November 2018
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MRI Abnormalities Predominate in the Bottom Part of the Sulcus with Type II Focal Cortical Dysplasia: A Quantitative Study.

AJNR Am J Neuroradiol 2018 Dec 13. Epub 2018 Dec 13.

From the Departments of Neurosurgery (Z.L., X.W., K.Z., J.Z.)

Background And Purpose: Type II focal cortical dysplasia is a common histopathological substrate in focal epilepsy. This study explored the spatial distribution of abnormal findings on MR imaging across the sulcus with type II focal cortical dysplasia using quantitative MR imaging postprocessing techniques.

Materials And Methods: The morphometric analysis program and normalized FLAIR signal intensity analysis were applied to retrospectively analyze the MR imaging data of 58 patients with histopathologically confirmed type II focal cortical dysplasia. Read More

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December 2018

The status and health burden of neurocysticercosis in Mbulu district, northern Tanzania.

BMC Res Notes 2018 Dec 13;11(1):890. Epub 2018 Dec 13.

Department of Zoology and Wildlife Conservation, University of Dar es Salaam, P.O. Box 35064, Dar es Salaam, Tanzania.

Objective: The objective of this study was to assess the extent and health burden of neurocysticercosis in the general community of the Mbulu district, northern Tanzania. About 1051 randomly select participants were screened for human cysticercosis. The Cysticercus Western Blot IgG and Computed Tomography scan were used to detect infection by cysticerci. Read More

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December 2018

A systematic review of deep brain stimulation for the treatment of drug-resistant epilepsy in childhood.

Authors:

J Neurosurg Pediatr 2018 Nov 1:1-11. Epub 2018 Nov 1.

OBJECTIVEDrug-resistant epilepsy (DRE) presents a therapeutic challenge in children, necessitating the consideration of multiple treatment options. Although deep brain stimulation (DBS) has been studied in adults with DRE, little evidence is available to guide clinicians regarding the application of this potentially valuable tool in children. Here, the authors present the first systematic review aimed at understanding the safety and efficacy of DBS for DRE in pediatric populations, emphasizing patient selection, device placement and programming, and seizure outcomes. Read More

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November 2018

Ictal networks of temporal lobe epilepsy: views from high-frequency oscillations in stereoelectroencephalography.

Authors:

J Neurosurg 2018 Nov 1:1-9. Epub 2018 Nov 1.

OBJECTIVEIn this study, the authors investigated high-frequency oscillation (HFO) networks during seizures in order to determine how HFOs spread from the focal cerebral cortex and become synchronized across various areas of the brain.METHODSAll data were obtained from stereoelectroencephalography (SEEG) signals in patients with drug-resistant temporal lobe epilepsy (TLE). The authors calculated intercontact cross-coefficients between all pairs of contacts to construct HFO networks in 20 seizures that occurred in 5 patients. Read More

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November 2018

Robot-assisted stereoelectroencephalography in children.

Authors:

J Neurosurg Pediatr 2018 Dec 1:1-9. Epub 2018 Dec 1.

OBJECTIVEThe goal in the study was to describe the clinical outcomes associated with robot-assisted stereoelectroencephalography (SEEG) in children.METHODSThe authors performed a retrospective, single-center study in consecutive children with medically refractory epilepsy who were undergoing robot-assisted SEEG. Kaplan-Meier survival analysis was used to calculate the probability of seizure freedom. Read More

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December 2018

Effective accuracy of stereoelectroencephalography: robotic 3D versus Talairach orthogonal approaches.

Authors:

J Neurosurg 2018 Dec 1:1-9. Epub 2018 Dec 1.

OBJECTIVEStereoelectroencephalography (SEEG) was first developed in the 1950s by Jean Talairach using 2D angiography and a frame-based, orthogonal approach through a metallic grid. Since then, various other frame-based and frameless techniques have been described. In this study the authors sought to compare the traditional orthogonal Talairach 2D angiographic approach with a frame-based 3D robotic procedure that included 3D angiographic interoperative imaging guidance. Read More

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December 2018

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Brain 2018 Dec 12. Epub 2018 Dec 12.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with prominent speech-related features, and epilepsy. We performed a comprehensive assessment of phenotypes with a standardized questionnaire in 92 previously unreported individuals with GRIN2A-related disorders. Applying the criteria of the American College of Medical Genetics and Genomics to all published variants yielded 156 additional cases with pathogenic or likely pathogenic variants in GRIN2A, resulting in a total of 248 individuals. Read More

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December 2018

A case of right orbitofrontal epilepsy featuring ictal swearing.

J Neurol Sci 2018 Dec 5;397:1-3. Epub 2018 Dec 5.

Beijing Institute of Functional Neurosurgery, Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, China.

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December 2018

Auditory stimulation improves motor function and caretaker burden in children with cerebral palsy- A randomized double blind study.

PLoS One 2018 13;13(12):e0208792. Epub 2018 Dec 13.

Meshi Children's Rehabilitation Center, Jerusalem, Israel.

Aim: To investigate the impact of auditory stimulation on motor function in children with cerebral palsy (CP) and disabling hypertonia.

Method: 9 matched pairs (age: 7y5m, SD 4y1m; 13 boys; gross-motor-functional-classification-scale: median 4; manual-ability-classification-system: median 4) were randomized to receive either auditory stimulation embedded in music (study, n = 9) or music alone (sham, control, n = 9) for at least 10 minutes 4 times a week for 4 weeks. Goal-Attainment-Scale, Care-and-Comfort-Hypertonicity-Questionnaire, Gross-Motor-Function-Measure and Quality-of-Upper-Extremity-Skills-Test (QUEST) were assessed before and 5 months following intervention. Read More

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December 2018

Comparison of methods to identify modules in noisy or incomplete brain networks.

Brain Connect 2018 Dec 13. Epub 2018 Dec 13.

University of Helsinki, Helsinki Institute for Life Science , PO Box 56 , Helsinki, Finland , FIN-00014 ;

Community structure, or "modularity", is a fundamentally important aspect in the organisation of structural and functional brain networks, but their identification with community detection methods is confounded by noisy or missing connections. While several methods have been used to account for missing data, the performance of these methods has not been compared quantitatively so far. In this study, we compared four different approaches to account for missing connections when identifying modules in binary and weighted networks using both Louvain and Infomap community detection algorithms. Read More

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December 2018

Demonstration of the effect of brivaracetam on an experimental epilepsy model

Turk J Med Sci 2018 12 12;48(6):1315-1320. Epub 2018 Dec 12.

Department of Neurosurgery, Faculty of Medicine, Dumlupınar University Kütahya, Turkey

Background/aim: The aim of this study was to investigate the effects of valproic acid (VPA) and a new-generation antiepileptic drug called brivaracetam (BRV) on the brain damage occurring after status epilepticus (SE) in rats.

Materials And Methods: In our study, an experimental animal model of SE, generated by stereotaxically injecting 0.4–2 μg of kainic acid into the rat hippocampus, was used. Read More

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December 2018

The effect of generalized seizure activity on ischemia-induced cardiac arrhythmias and myocardial injury with histopathological evaluation in anesthetized rats

Turk J Med Sci 2018 12 12;48(6):1293-1301. Epub 2018 Dec 12.

Department of Physiology, Faculty of Medicine, Kocaeli University, Kocaeli, Turkey

Background/aim: Epileptic seizure leads to sudden unexpected death in epilepsy (SUDEP) among affected patients. The causes of SUDEP are still unclear. The aim of this study was to research the effect of epilepsy on myocardial injury and arrhythmias during experimentally induced acute myocardial ischemia. Read More

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December 2018

CB2R induces a protective response for epileptic seizure via the PI3K 110α-AKT signaling pathway.

Exp Ther Med 2018 Dec 24;16(6):4784-4790. Epub 2018 Sep 24.

Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R. China.

Epilepsy is a chronic brain disease caused by abnormal discharging in the brain, which induces momentary brain dysfunction. Cannabinoid 2 receptor (CB2R) is expressed in central nervous system (CNS) and serves an important role in the pathogenesis of CNS diseases. The aim of the present study was to explore the effects of CB2R activation on phosphoinositide 3-kinase (PI3K) 110α-protein kinase B (AKT) signaling in an astrocyte model of epilepsy. Read More

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December 2018

Astroglial Ca-Dependent Hyperexcitability Requires P2Y Purinergic Receptors and Pannexin-1 Channel Activation in a Chronic Model of Epilepsy.

Front Cell Neurosci 2018 23;12:446. Epub 2018 Nov 23.

Centro de Neurobiología y Plasticidad Cerebral CNPC, Instituto de Fisiología, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.

Astrocytes from the hippocampus of chronic epileptic rats exhibit an abnormal pattern of intracellular calcium oscillations, characterized by an augmented frequency of long lasting spontaneous Ca transients, which are sensitive to purinergic receptor antagonists but resistant to tetrodotoxin. The above suggests that alterations in astroglial Ca-dependent excitability observed in the epileptic tissue could arise from changes in astrocyte-to-astrocyte signaling, which is mainly mediated by purines in physiological and pathological conditions. In spite of that, how purinergic signaling contributes to astrocyte dysfunction in epilepsy remains unclear. Read More

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November 2018

Imbalance of Functional Connectivity and Temporal Entropy in Resting-State Networks in Autism Spectrum Disorder: A Machine Learning Approach.

Front Neurosci 2018 27;12:869. Epub 2018 Nov 27.

Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, United States.

Two approaches to understanding the etiology of neurodevelopmental disorders such as Autism Spectrum Disorder (ASD) involve network level functional connectivity (FC) and the dynamics of neuronal signaling. The former approach has revealed both increased and decreased FC in individuals with ASD. The latter approach has found high frequency EEG oscillations and higher levels of epilepsy in children with ASD. Read More

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November 2018

Antiepileptic Drug of Levetiracetam Decreases Centrotemporal Spike-Associated Activation in Rolandic Epilepsy.

Front Neurosci 2018 27;12:796. Epub 2018 Nov 27.

Department of Medical Imaging, Jinling Hospital, Southern Medical University, Nanjing, China.

The objective was to study the modulation effects of levetiracetam on the fMRI activation/deactivation patterns associated with centrotemporal spikes (CTS) in Rolandic epilepsy. Forty patients with Rolandic epilepsy, including levetiracetam-medicated patients ( = 20) and drug-naive patients ( = 20), were studied. Single and sequential hemodynamic response functions-based EEG-fMRI analysis was performed to detect dynamic activation/deactivation associated with CTS. Read More

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November 2018

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.

J Hum Genet 2018 Dec 12. Epub 2018 Dec 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX, 77030, USA.

In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype, we collected phenotypic data on 51,462 patients referred for genetic testing at two centers (Magee-Womens Hospital of UPMC and Baylor Genetics Laboratories, Baylor College of Medicine). Using array CGH, 262 patients with deletions and 215 with duplications were identified and tested for their association with four phenotypes (developmental delay, dysmorphic features, autism group of disorders, and epilepsy/seizures). Read More

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December 2018

Gene therapy targets epilepsy.

Authors:
Liam Drew

Nature 2018 Dec;564(7735):S10-S11

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December 2018

Frequent lucid dreaming associated with increased functional connectivity between frontopolar cortex and temporoparietal association areas.

Sci Rep 2018 Dec 12;8(1):17798. Epub 2018 Dec 12.

Wisconsin Institute for Sleep and Consciousness Department of Psychiatry, University of Wisconsin, Madison, USA.

Humans typically lack awareness that they are dreaming while dreaming. However, at times a remarkable exception occurs and reflective consciousness can be regained while dreaming, referred to as lucid dreaming. While most individuals experience lucid dreams rarely there is substantial variance in lucid dream frequency. Read More

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December 2018

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2018 Dec 12. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, New South Wales, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u.angeborene Stoffwechselerkrankungen, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Australia.

Objective: To delineate the epileptology, a key part of the phenotypic spectrum, in a large patient cohort.

Methods: Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic variants or chromosome 6p21. Read More

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December 2018
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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

BMC Neurol 2018 Dec 12;18(1):203. Epub 2018 Dec 12.

FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, Gujarat, 380015, India.

Background: Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, nearly 76 mutations in PPT1 and approximately 140 mutations, including large deletion/duplications, in TPP1 genes have been reported in the literature. The present study includes 34 unrelated Indian patients (12 females and 22 males) having epilepsy, visual impairment, cerebral atrophy, and cerebellar atrophy. Read More

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December 2018

Imaging episodic memory during development and childhood epilepsy.

J Neurodev Disord 2018 Dec 13;10(1):40. Epub 2018 Dec 13.

Center for Neuroscience Research, Children's National Medical Center, 111 Michigan Avenue NW, Washington, D.C., 20010, USA.

Epilepsy affects 2.2 million adults in the USA, with 1 in 26 people developing epilepsy at some point in their lives. Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy as medial structures, and the hippocampus in particular, are prone to generating seizures. Read More

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December 2018

Spontaneous Cure of Acute Hepatitis C.

Curr Health Sci J 2015 Oct-Dec;41(4):375-378. Epub 2015 Dec 22.

Department of Gastroenterology and Hepatology, Universitary Hospital Santa Maria, Lisbon.

The statistics proved that approximately 25% of the patients with acute HCV present with jaundice, and only 10-20% develop gastrointestinal symptoms. We present the case of a 58 year-old woman, with prior antecedents of arterial hypertension and diabetes mellitus since 25 years old, hypercholesterolemia and hypertriglyceridemia, psoriasis, epilepsy and depressive syndrome. She clinically presents asthenia, anorexia, itching, jaundice and choluria. Read More

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December 2015

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.

Epilepsia 2018 Dec 7. Epub 2018 Dec 7.

Department of Human Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

Objective: Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole exome sequencing (WES). Read More

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December 2018

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

Epilepsia 2018 Dec 7. Epub 2018 Dec 7.

INSERM Unit U1129 Infantile Epilepsies and Brain Plasticity, University Paris Descartes, Sorbonne Paris Cité, Paris, France.

Objective: We aimed to characterize epilepsy of infancy with migrating focal seizures (EIMFS), a rare, severe early onset developmental epilepsy related to KCNT1 mutation, and to define specific electroencephalography (EEG) markers using EEG quantitative analysis. The ultimate goal would be to improve early diagnosis and to better understand seizure onset and propagation of EIMFS as compared to other early onset developmental epilepsy.

Methods: EEG of 7 EIMFS patients with KCNT1 mutations (115 seizures) and 17 patients with other early onset epilepsies (30 seizures) was included in this study. Read More

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December 2018

Running-down phenomenon captured with chronic electrocorticography.

Epilepsia Open 2018 Dec 19;3(4):528-534. Epub 2018 Oct 19.

Department of Neurology NYU School of Medicine New York New York U.S.A.

The running-down phenomenon refers to 2 analogous but distinct entities that may be seen after epilepsy surgery. The first is clinical, and denotes a progressive diminution in seizures after epilepsy surgery in which the epileptogenic zone could not be completely removed (Modern Problems of Psychopharmacology 1970;4:306, Brain 1996:989). The second is electrographic, and refers to a progressive deactivation of a secondary seizure focus after removal of the primary epileptogenic zone. Read More

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December 2018

Confirming the pathogenicity of in early onset epileptic encephalopathy.

Epilepsia Open 2018 Dec 12;3(4):524-527. Epub 2018 Nov 12.

King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia.

Early onset epileptic encephalopathy (EOEE) has been used to encompass Ohtahara syndrome (early infantile epileptic encephalopathy [EIEE]), early myoclonic epilepsy, and many others. Multiple genes have been established to cause epileptic encephalopathy in the immature brain, and next-generation sequencing has accelerated the process of novel gene discovery. Many of the previously published candidate genes are still pending confirmatory reports or functional studies. Read More

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December 2018

A single seizure selectively impairs hippocampal-dependent memory and is associated with alterations in PI3K/Akt/mTOR and FMRP signaling.

Epilepsia Open 2018 Dec 28;3(4):511-523. Epub 2018 Oct 28.

Institute of Biomedical Studies Baylor University Waco Texas U.S.A.

Objective: A single brief seizure before learning leads to spatial and contextual memory impairment in rodents without chronic epilepsy. These results suggest that memory can be impacted by seizure activity in the absence of epilepsy pathology. In this study, we investigated the types of memory affected by a seizure and the time course of impairment. Read More

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December 2018

A retrospective observational study of EEG findings and antiepileptic drug use among children referred for EEG to Zambia's University Teaching Hospital.

Epilepsia Open 2018 Dec 16;3(4):503-510. Epub 2018 Oct 16.

Epilepsy Division Department of Neurology University of Rochester Rochester New York U.S.A.

Objective: Despite the heavy burden of epilepsy in Sub-Saharan Africa, there remains a relative paucity of neurophysiology services and limited published data on electroencephalography (EEG) features among African children. The aim of this study was to describe clinical characteristics, EEG findings, and antiepileptic drug (AED) use among children referred for EEG to the University Teaching Hospital in Zambia.

Methods: EEG referrals and reports from 2013-2015 were reviewed. Read More

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December 2018

mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Epilepsia Open 2018 Dec 1;3(4):495-502. Epub 2018 Nov 1.

Department of Pediatrics Showa University School of Medicine Shinagawa-ku, Tokyo Japan.

Objective: Vitamin B-dependent epilepsies are treatable disorders caused by variants in several genes, such as ,, and others. Recently, biallelic variants in formerly known as , were identified as a novel cause of vitamin B-dependent epilepsies. Our objective was to further delineate the phenotype of mutation. Read More

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December 2018