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absence epilepsy

Wenchao Qiu, Yuan Gao, Chuanyong Yu, Ailiang Miao, Lu Tang, Shuyang Huang, Zheng Hu, Jing Xiang, Xiaoshan Wang
Purpose: Childhood absence epilepsy (CAE) is a common syndrome of idiopathic generalized epilepsy. However, little is known about the brain structural changes in this type of epilepsy, especially in the default mode network (DMN) regions. This study aims at using the diffusion tensor imaging (DTI) technique to quantify structural abnormalities of DMN nodes in CAE patients. Method: DTI data were acquired in 14 CAE patients (aged 8.64 ± 2.59 years, seven females and seven males) and 16 age- and sex-matched healthy controls...
2016: Frontiers in Human Neuroscience
Marina V Sysoeva, Lyudmila V Vinogradova, Galina D Kuznetsova, Ilya V Sysoev, Clementina M van Rijn
PURPOSE: Spike-and-wave discharges (SWDs) recorded in the cortical EEGs of WAG/Rij rats are the hallmark for absence epilepsy in this model. Although this type of epilepsy was long regarded as a form of primary generalized epilepsy, it is now recognized that there is an initiation zone - the perioral region of the somatosensory cortex. However, networks involved in spreading the seizure are not yet fully known. Previously, the dynamics of coupling between different layers of the perioral cortical region and between these zones and different thalamic nuclei was studied in time windows around the SWDs, using nonlinear Granger causality...
October 8, 2016: Epilepsy & Behavior: E&B
A R Rao, M Yourshaw, B Christensen, S F Nelson, B Kerner
Bipolar disorder (BD) is a common, complex and heritable psychiatric disorder characterized by episodes of severe mood swings. The identification of rare, damaging genomic mutations in families with BD could inform about disease mechanisms and lead to new therapeutic interventions. To determine whether rare, damaging mutations shared identity-by-descent in families with BD could be associated with disease, exome sequencing was performed in multigenerational families of the NIMH BD Family Study followed by in silico functional prediction...
October 11, 2016: Molecular Psychiatry
R Duncan
In the investigation of psychogenic nonepileptic seizures (PNES), the main differential diagnoses are between convulsive PNES and tonic-clonic seizures, between swoon PNES and syncope, and between pseudoabsence PNES and absence seizures. For the best diagnostic certainty, events must be captured, ideally using video-electroencephalogram (EEG), including an electrocardiographic channel. The "video" part of video-EEG allows EEG changes (or lack of them) to be interpreted in the appropriate clinical context. When the diagnosis is based on less good data (e...
2017: Handbook of Clinical Neurology
Nadia Kafui Adotevi, Beulah Leitch
Absence seizures arise from disturbances within the corticothalamocortical network, however the precise cellular and molecular mechanisms underlying seizure generation arising from different genetic backgrounds are not fully understood. While recent experimental evidence suggests that changes in inhibitory microcircuits in the cortex may contribute to generation of the hallmark spike-wave discharges, it is still unclear if altered cortical inhibition is a result of interneuron dysfunction due to compromised glutamatergic excitation and/or changes in cortical interneuron number...
October 4, 2016: Neuroscience
Peter Stilwell, Katherine Harman, William Hsu, Brian Seaman
BACKGROUND: Musculoskeletal injuries stemming from forceful muscular contractions during seizures have been documented in the literature. Reports of multiple seizure-induced spinal fractures, in the absence of external trauma and without risk factors for fracture, are rare. CASE PRESENTATION: A 28-year-old male, newly diagnosed with epilepsy, presented to a chiropractic clinic with the complaint of mid-thoracic pain beginning after a tonic-clonic seizure with no associated external trauma...
September 2016: Journal of the Canadian Chiropractic Association
M L Mamalyga, L M Mamalyga
Circadian peculiarities of HR regulation and functional capacities of the heart in WAG/Rij rats with genetically determined absence epilepsy are related to spike-wave activity of the brain. The number of spike-wave discharges (SWD) is maximum at night, early morning, and evening time and decreases to minimum at 08.00-16.00. At night, functional capacities of the heart are reduced and stress test at night induces ischemic changes in the myocardium at a lower functional load than in the daytime (low level of SWD activity)...
September 2016: Bulletin of Experimental Biology and Medicine
L M Birioukova, E Yu Sitnikova, M A Kulikov, V V Raevsky
Involvement of the brain dopaminergic system in the age-related dynamics of absence epilepsy in WAG/Rij rats was examined by histological, immunohistochemical, and electrophysiological (EEG) methods. We revealed reduced expression of dopamine receptors in various brain structures prior to first manifestations of the disease (at the age of 1-3 months), reduced density of neurons in the center of nigrostriatal system (substantia nigra pars compacta) in 10-month-old rats in comparison with 1-month-old rats, and positive correlation between neural density in the substantia nigra and intensity of epileptic activity in EEG...
September 2016: Bulletin of Experimental Biology and Medicine
Ike Oluwa Abiola Lagunju, Yetunde Celia Adeniyi, Gbemi Olukolade
INTRODUCTION: Epilepsy has long been associated with cognitive dysfunction and educational underachievement. The purpose of the study was to describe the baseline findings from a larger prospective study. METHODS: New cases of epilepsy aged 6-16 years seen at a paediatric neurology clinic in Ibadan, Nigeria were evaluated for any evidence of cognitive impairment. Intelligence quotient (IQ) of the participants was measured using the Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV)...
2016: Pan African Medical Journal
Hong-Li Huang, Hao Zhou, Nuan Wang, Chun-Yu Yu
Epilepsy is a common neurodegenerative disease with an increasing morbidity. Clinical treatment of epilepsy includes symptomatic treatment, etiological treatment, surgery and prevention. The aim of the present study was to determine the effects of antiepileptic drugs (AEDs) on serum folate and vitamin B12 in various epileptic patients, and to examine the correlation between these effects and secondary cerebrovascular events. A total of 68 epileptic patients, diagnosed between May 2012 and May 2014, were included in the present study...
October 2016: Biomedical Reports
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
STUDY OBJECTIVES: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared EEG and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). METHODS: Male Cntnap2 knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, EMG, body temperature and locomotor activity...
September 26, 2016: Sleep
Grant Gillary, Ernst Niebur
The standard architecture of neocortex is a network with excitation and inhibition in closely maintained balance. These networks respond fast and with high precision to their inputs and they allow selective amplification of patterned signals. The stability of such networks is known to depend on balancing the strengths of positive and negative feedback. We here show that a second condition is required for stability which depends on the relative strengths and time courses of fast (AMPA) and slow (NMDA) currents in the excitatory projections...
September 2016: PLoS Computational Biology
Temesgen Yohannes Hasiso, Tigestu Alemu Desse
BACKGROUND: Non adherence of epileptic patients to antiepileptic medication often leads to an increased risk of seizures and worsening of disease, death and increased health care costs. OBJECTIVE: to assess adherence to treatment and factors affecting adherence of epileptic patients at Yirgalem General Hospital, Southern Ethiopia. METHODS AND MATERIALS: We conducted a cross-sectional study on epileptic patients from February 9 to 22, 2015...
2016: PloS One
P Garzon, L Lemelle, S Auvin
Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome accounting for 10% of all pediatric epilepsies. The aim of this review is to provide an updated overview of this epilepsy syndrome to pediatricians. Most of the patients can be initially managed in private practice or in general pediatric settings. Absence seizures are the only seizure type observed at the time of diagnosis in these patients. An electroencephalogram recording and a clinical evaluation lead to the diagnosis. The underlying mechanisms are not yet fully understood...
September 24, 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth Emma Palmer, Michael Field, Jackie Boyle, David Chitayat, William D Gaillard, Eric H Kossoff, Marjolaine Willems, David Geneviève, Frederic Tran-Mau-Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel-Paulet, Ame'lie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky-Silver, Tally Lerman-Sagie
OBJECTIVE: IQSEC2 is an X-linked gene associated with intellectual disability (ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. METHODS: Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study...
September 26, 2016: Epilepsia
Elza Márcia Yacubian
PURPOSE: Since its initial 1957 description, juvenile myoclonic epilepsy (JME) has been recognized as a common epileptic syndrome worldwide. METHODS: We reviewed a series of articles on JME to clarify challenges in clinical and pathophysiological findings, treatment and outcome. RESULTS: Typical JME characteristics include: 1) the age at seizure onset between 10 and 25 years; 2) the triad of myoclonia, generalized tonic-clonic seizures, and absences, of which only myoclonia is a mandatory criterion; 3) cognitive dysfunction that may have impact on interpersonal relationships and social outcome; 4) possibility of seizure control in up to 80% of individuals, in particular with the use of sodium valproate; 5) a tendency for lifelong seizures with an early morning preponderance; 6) after decades from the clinical onset, a possibility to be off medications for a third of the patients, and 7) several prognostic factors...
September 15, 2016: Seizure: the Journal of the British Epilepsy Association
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Xinlin Zhou, Qian Chen
Although neuropsychological studies have demonstrated specific cognitive impairments in children with childhood absence epilepsy (CAE), the potential role of the frontal lobe in these cognitive deficits remains unclear. We therefore evaluated cognitive functions related to and unrelated to the functionality of the frontal lobe in childhood absence epilepsy patients and control subjects. Thirty-seven childhood absence epilepsy patients and 37 age- and gender-matched healthy control subjects were recruited and assessed using a computerized neuropsychological test battery...
September 23, 2016: Journal of Child Neurology
Oscar Brenes, Valentina Carabelli, Sara Gosso, Adarli Romero, Emilio Carbone, Pier Giorgio Montarolo, Mirella Ghirardi
Synapsins are a family of presynaptic proteins related to several processes of synaptic functioning. A variety of reports have linked mutations in synapsin genes with the development of epilepsy. Among the proposed mechanisms, a main one is based on the synapsin-mediated imbalance towards network hyperexcitability due to differential effects on neurotransmitter release in GABAergic and glutamatergic synapses. Along this line, a non-synaptic effect of synapsin depletion increasing neuronal excitability has recently been described in Helix neurons...
September 6, 2016: Epilepsy Research
M Ferlisi, T Zanoni, G Moretto, A Pasqualin
Seizures are common symptoms of supratentorial arteriovenous malformations (AVMs). The potential risk factors for epilepsy in patients with AVMs are still controversial. The reported long-term outcome of seizures after surgical treatment of AVMs is variable and the data available are mainly from small retrospective case series.We identified all consecutive patients between 1990 and 2006 who underwent microsurgical resection of supratentorial AVMs at our institute. Pre-operative risk factors for seizures, intra-operative characteristics, long-term neurological disability, and seizure outcome (Engel's classification) were recorded and analyzed...
2016: Acta Neurochirurgica. Supplement
Roger W Byard, Maria Bellis, Neil Ei Langlois
Careful examination of the skin and soft tissues is a routine part of the forensic autopsy to identify and characterise traumatic lesions. Three cases are reported where benign vascular lesions presented as bruises. In case 1, a 44-year-old man with a history of epilepsy was found dead on the floor. Dissection of the neck revealed a haemorrhagic area 15 mm × 1.5 mm, deep to the left thyrohyoid muscle. In case 2, an 87-year-old man was found dead with a plastic bag over his head attached to an opened cylinder of nitrogen gas...
September 10, 2016: Medicine, Science, and the Law
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