keyword
MENU ▼
Read by QxMD icon Read
search

epilepsy syndrome

keyword
https://www.readbyqxmd.com/read/28931825/disrupted-topological-organization-of-structural-brain-networks-in-childhood-absence-epilepsy
#1
Wenchao Qiu, Chuanyong Yu, Yuan Gao, Ailiang Miao, Lu Tang, Shuyang Huang, Wenwen Jiang, Jintao Sun, Jing Xiang, Xiaoshan Wang
Childhood absence epilepsy (CAE) is the most common paediatric epilepsy syndrome and is characterized by frequent and transient impairment of consciousness. In this study, we explored structural brain network alterations in CAE and their association with clinical characteristics. A whole-brain structural network was constructed for each participant based on diffusion-weighted MRI and probabilistic tractography. The topological metrics were then evaluated. For the first time, we uncovered modular topology in CAE patients that was similar to healthy controls...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28929921/clinical-implications-of-interictal-epileptiform-discharges-in-cognitive-functioning-in-cec-syndrome-with-evolution-into-epileptic-encephalopathy
#2
Paolo Bonanni, Susanna Negrin, Lisa Antoniazzi, Martina Da Rold, Franco Fabbro, Anna Serafini
In epileptic encephalopathies (EE), interictal epileptiform discharges (IEDs) contribute to cognitive impairment. The EE process has been studied in a patient affected by epilepsy with occipital calcification and celiac disease (CEC syndrome) by combining the administration of brain area stimulus specific (visual and auditory) reaction times (RT) during continuous EEG monitoring with the off-line reconstruction of auditory and visual evoked potentials (EP). Visual RT and VEP were abnormal only if recorded concomitantly to the IEDs...
September 20, 2017: Neurocase
https://www.readbyqxmd.com/read/28927715/microstructural-white-matter-changes-and-their-relation-to-neuropsychological-deficits-in-patients-with-juvenile-myoclonic-epilepsy
#3
Susanne Knake, Christine Roth, Marcus Belke, Jens Sonntag, Tobias Kniess, Soeren Krach, Andreas Jansen, Jens Sommer, Frieder M Paulus, Barbara Carl, Felix Rosenow, Anke M Hermsen, Katja Menzler
OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome. Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal thalamocortical networks. METHODS: We investigated possible microstructural white matter abnormalities of 20 patients with JME as compared with 20 healthy control subjects using diffusion tensor imaging (DTI)...
September 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28914199/clinical-applications-of-intravenous-immunoglobulins-in-child-neurology
#4
Maria Gogou, Efimia Papadopoulou-Alataki, Martha Spilioti, Sofia Alataki, Athanasios Evangeliou
BACKGROUND: While there are guidelines for the use of intravenous immunoglobulins in children with Guillain-Barre syndrome and myasthenia gravis based on high-level evidence studies, data is fewer for the majority of neurologic disorders in this age group. Neuronal antibodies are detected in children with seizures of autoimmune etiology. Intravenous immunoglobulins with their broad immunomodulatory mechanism of action could be ideally effective in different forms of immune-dysregulated intractable epilepsies such as autoimmune epilepsy and autoimmune Rasmussen encephalitis...
September 15, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#5
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28913167/ictal-conduction-aphasia-and-ictal-angular-gyrus-syndrome-as-rare-manifestations-of-epilepsy-the-importance-of-ictal-testing-during-video-eeg-monitoring
#6
Johann Philipp Zöllner, Anja Haag, Anke Hermsen, Sebastian Bauer, Friederike Stahl, Karina Wulf, Katja Menzler, Philipp S Reif, Marlies Wagner, Axel Pagenstecher, Ulrich Sure, Susanne Knake, Felix Rosenow, Adam Strzelczyk
The aim of these two case reports is to demonstrate that a predefined, structured, multimodal clinical bed-side testing during seizures in a long-term video-EEG monitoring setting facilitates diagnosis of complex neuropsychological syndromes. To the best of our knowledge, we present the first case of conduction aphasia as the sole ictal semiology, and a patient with focal seizures producing an angular gyrus syndrome in the speech dominant hemisphere. The relevance of diagnosing ictal aphasic and angular gyrus syndromes and localizing the symptomatogenic zone is discussed...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28900300/rogdi-defines-gabaergic-control-of-a-wake-promoting-dopaminergic-pathway-to-sustain-sleep-in-drosophila
#7
Minjong Kim, Donghoon Jang, Eunseok Yoo, Yangkyun Oh, Jun Young Sonn, Jongbin Lee, Yoonhee Ki, Hyo Jin Son, Onyou Hwang, Changwook Lee, Chunghun Lim, Joonho Choe
Kohlschutter-Tönz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. Mutations at the Rogdi locus have been linked to development of KTS, yet the underlying mechanisms remain elusive. Here we demonstrate that a Drosophila homolog of Rogdi acts as a novel sleep-promoting factor by supporting a specific subset of gamma-aminobutyric acid (GABA) transmission. Rogdi mutant flies displayed insomnia-like behaviors accompanied by sleep fragmentation and delay in sleep initiation...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28899459/-ring-14-chromosome-syndrome-in-a-boy-mainly-manifesting-as-drug-resistant-epilepsy
#8
Chen Chen, Li-Wen Wu, Fang He, Li-Fen Yang, Pu Miao, Yu-Ping Ma, Xiao-Le Wang, Jing Peng
No abstract text is available yet for this article.
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#9
MULTICENTER STUDY
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28898171/febrile-infection-related-epilepsy-syndrome-fires-a-literature-review-and-case-study
#10
Kristy Fox, Mary Ellen Wells, Michael Tennison, Bradley Vaughn
Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic epileptic syndrome that strikes previously healthy children aged 3-15 years and has an unknown pathogenesis and few treatments. These children experience a nonspecific febrile illness that is followed by prolonged refractory status epilepticus. Although the etiology is unknown, FIRES has a biphasic presentation, with the acute phase beginning as seizure activity lasting 1-12 weeks, then followed by the chronic phase, which is characterized by refractory seizures that cluster every 2-4 weeks, and may continue to be multifocal and independent...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28894505/increased-mitochondrial-mass-and-cytosolic-redox-imbalance-in-hippocampal-astrocytes-of-a-mouse-model-of-rett-syndrome-subcellular-changes-revealed-by-ratiometric-imaging-of-jc-1-and-rogfp1-fluorescence
#11
Dörthe F Bebensee, Karolina Can, Michael Müller
Rett syndrome (RTT) is a neurodevelopmental disorder with mutations in the MECP2 gene. Mostly girls are affected, and an apparently normal development is followed by cognitive impairment, motor dysfunction, epilepsy, and irregular breathing. Various indications suggest mitochondrial dysfunction. In Rett mice, brain ATP levels are reduced, mitochondria are leaking protons, and respiratory complexes are dysregulated. Furthermore, we found in MeCP2-deficient mouse (Mecp2(-/y) ) hippocampus an intensified mitochondrial metabolism and ROS generation...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28893669/mismatch-novelty-exploration-training-enhances-hippocampal-synaptic-plasticity-a-tool-for-cognitive-stimulation
#12
M F Aidil-Carvalho, A J S Carmo, J A Ribeiro, D Cunha-Reis
Memory formation relies on experience-dependent changes in synaptic strength such as long-term potentiation (LTP) or long-term depression (LTD) of synaptic activity, that in turn depend on previous learning experiences through metaplasticity. Novelty detection is a particularly important cognitive stimulus in this respect, and mismatch novelty has been associated with the activation of the hippocampal CA1 area in human studies. A single exposure a new location of known objects in a familiar environment, a behavioural mismatch novelty paradigm, is known to favour the expression of LTD in hippocampal CA3 to CA1 synaptic transmission in vivo, through short-term metaplasticity...
September 8, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#13
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28892148/mtor-mutations-in-smith-kingsmore-syndrome-four-additional-patients-and-a-review
#14
G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz Pérez, V Martinez-Glez, P Lapunzina
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA: 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis...
September 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28888970/glial-overexpression-of-dube3a-causes-seizures-and-synaptic-impairments-in-drosophila-concomitant-with-down-regulation-of-the-na-k-pump-atp%C3%AE
#15
Kevin A Hope, Mark S LeDoux, Lawrence T Reiter
Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. We show that Drosophila endogenously expresses Dube3a (fly UBE3A homolog) in glial cells and neurons, prompting an investigation into the consequences of glial Dube3a overexpression. Here we expand on previous work showing that the Na(+)/K(+) pump ATPα is a direct ubiquitin ligase substrate of Dube3a...
September 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28887607/respiratory-distress-syndrome-in-preterm-infants-and-risk-of-epilepsy-in-a-danish-cohort
#16
Sandra Kruchov Thygesen, Morten Olsen, Lars Pedersen, Victor W Henderson, John Rosendahl Østergaard, Henrik Toft Sørensen
Infant respiratory distress syndrome (IRDS) may be complicated by intracerebral hemorrhage, a known trigger of epilepsy. However, few data exist on long term epilepsy risk following IRDS. We therefore examined the association between IRDS in preterm infants and childhood epilepsy. We conducted a population-based cohort study using individual-level data linkage among nationwide registries. All infants born at 32-36 weeks of gestation in 1978-2009 were identified in the Medical Birth Registry. We identified children with IRDS and those with epilepsy using the Danish National Patient Registry...
September 8, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28884730/-pharmacological-effects-and-clinical-application-of-pantogam-and-pantogam-active
#17
T A Voronina, S A Litvinova
Clinical studies and experience in the use of pantogam (hopanthenic acid) and pantogam active (rac-gopantenic/D-, L-gopantenic acid) showed their efficacy and safety in patients with various pathologies. Pantogam has a unique spectrum of pharmacological effects (nootropic, anticonvulsant, mild activating) in the absence of addiction, hyperstimulation or withdrawal syndrome. Pantogam active, having also an additional anxiolytic effect, is characterized by bimodal activity, improves not only cognitive functions, but also emotional state in patients in psychiatric, neurological and cardiological practice with such diseases and conditions as anxiety/anxiety-depressive disorders, chronic brain ischemia, ischemic heart disease, chronic heart failure, arterial hypertension, epilepsy, craniocerebral trauma, schizophrenia as well as cognitive impairment in the structure of neurological and psychogenic deficiencies...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28882607/efficacy-and-safety-in-frameless-robot-assisted-stereo-electroencephalography-seeg-for-drug-resistant-epilepsy
#18
I Ollivier, C Behr, H Cebula, A Timofeev, M Benmekhbi, M P Valenti, A M Staack, J Scholly, P Kehrli, E Hirsch, F Proust
INTRODUCTION: Stereo-electroencephalography (SEEG) is an invasive procedure, used to identify the epileptogenic zone that can be surgically removed in order to treat drug-resistant epilepsy. Frameless robot-assisted positioning of depth electrodes permits a 3D approach with different obliquities and trajectories. The objective of the present study was to evaluate the morbidity and the accuracy related to this frameless procedure. PATIENTS AND METHODS: Sixty-six patients were managed wherein 901 electrodes were implanted during a 6-year-period...
September 4, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28880996/dravet-syndrome-and-its-mimics-beyond-scn1a
#19
REVIEW
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences...
September 7, 2017: Epilepsia
https://www.readbyqxmd.com/read/28874317/generalized-paroxysmal-fast-activity-in-eeg-an-unrecognized-finding-in-genetic-generalized-epilepsy
#20
Vishwanath Sagi, Inyup Kim, Amar B Bhatt, Hasan Sonmezturk, Bassel W Abou-Khalil, Amir M Arain
OBJECTIVE: To study generalized paroxysmal fast activity (GPFA) in patients with genetic generalized epilepsy (GGE). INTRODUCTION: GPFA is an electroencephalographic (EEG) finding in patients with symptomatic generalized epilepsy consisting of 15-25Hz bifrontally predominant generalized fast activity seen predominantly in sleep. Historically GPFA is linked to epileptic encephalopathy with drug resistant epilepsy and intellectual disability. However, GPFA has been rarely described as an atypical finding in patients with GGE without negative prognostic implication...
September 2, 2017: Epilepsy & Behavior: E&B
keyword
keyword
54280
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"