keyword
https://read.qxmd.com/read/33098379/early-onset-severe-spinocerebellar-ataxia-42-with-neurodevelopmental-deficits-sca42nd-case-report-pharmacological-trial-and-literature-review
#1
Dídac Casas-Alba, Laura López-Sala, Marta Pérez-Ordóñez, Rosanna Mari-Vico, Mercè Bolasell, Antonio F Martínez-Monseny, Jordi Muchart, José M Fernández-Fernández, Loreto Martorell, Mercedes Serrano
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND, MIM#604065) is an ultrarare autosomal dominant syndrome related to de novo CACNA1G gain-of-function pathogenic variants. All patients with SCA42ND show cerebellar atrophy and/or hypoplasia on neuroimaging and share common features such as dysmorphic features, global developmental delay, and axial hypotonia, all manifesting within the first year of life. To date, only 10 patients with SCA42ND have been reported with functionally confirmed gain-of-function variants, bearing either of two recurrent pathogenic variants...
October 24, 2020: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/33098362/disrupted-topological-properties-of-functional-networks-in-epileptic-children-with-generalized-tonic-clonic-seizures
#2
Yongxin Li, Qian Chen, Wenhua Huang
INTRODUCTION: Generalized tonic-clonic seizure (GTCS) is a condition that is characterized by generalized spike-wave discharge in bilateral cerebral hemispheres during the seizure. Although previous neuroimaging studies revealed functional abnormalities in the brain activities of children with GTCS, the topological alterations in whole-brain networks remain poorly understood. METHODS: The present study used graph theory to investigate the topological organization of functional networks in 13 GTCS children and 30 age-matched healthy controls...
October 24, 2020: Brain and Behavior
https://read.qxmd.com/read/33098311/generalized-focal-and-combined-epilepsies-in-families-new-evidence-for-distinct-genetic-factors
#3
Colin A Ellis, Ruth Ottman, Michael P Epstein, Samuel F Berkovic
OBJECTIVE: To determine the roles of shared and distinct genetic influences on generalized and focal epilepsy operating in individuals who manifest features of both types (combined epilepsies), and in families manifesting both generalized and focal epilepsies in separate individuals (mixed families). METHODS: We analyzed the deeply phenotyped Epi4K cohort of multiplex families (≥3 affected individuals per family) using methods that quantify the aggregation of phenotypes within families and the relatedness of individuals with different phenotypes within family pedigrees...
October 23, 2020: Epilepsia
https://read.qxmd.com/read/33098125/atipamezole-a-specific-%C3%AE-2a-antagonist-suppresses-spike-and-wave-discharges-and-alters-ca-2%C3%A2-%C2%BA-calmodulin-dependent-protein-kinase-ii-in-the-thalamus-of-genetic-absence-epilepsy-rats
#4
Melis Yavuz, Banu Aydın, Nihan Çarçak, Özlem Akman, Hasan Raci Yananlı, Filiz Onat
OBJECTIVE: The role of α2A adrenergic receptors (α2A ARs) in absence epilepsy is not well characterized. Therefore, we investigated the outcomes of the specific antagonism of α2A ARs on the spike-and-wave discharges (SWDs) in genetic absence epilepsy rats from Strasbourg (GAERSs), together with its influence on the behavior and second messenger systems, which may point to the mechanisms to which a possible SWD modulation can be related. METHODS: Atipamezole, an α2A AR antagonist, was administered intracerebroventricularly to the adult GAERSs, and electroencephalography (EEG) was conducted...
October 23, 2020: Epilepsia
https://read.qxmd.com/read/33098124/anterior-temporal-encephaloceles-elusive-important-and-rewarding-to-treat
#5
Gabrielle T Tse, Aviva S Frydman, Marie F O'Shea, Greg J Fitt, David L Weintrob, Michael A Murphy, Gavin C Fabinyi, Kristian J Bulluss, Mark J Cook, Samuel F Berkovic
OBJECTIVE: To investigate the etiology and longitudinal clinical, neuropsychological, psychosocial, and surgical outcome profile of patients with medication refractory epilepsy and temporal encephaloceles with a view to highlight diagnostic clues and management strategies. METHODS: The comprehensive epilepsy program databases at two surgical epilepsy centers from January 2000 to October 2018 were reviewed for this observational study, to identify patients with encephaloceles causing temporal lobe epilepsy (TLE) and treated with surgical resection...
October 23, 2020: Epilepsia
https://read.qxmd.com/read/33098118/neonatal-genetic-epilepsies-display-convergent-white-matter-microstructural-abnormalities
#6
Amanda G Sandoval Karamian, Courtney J Wusthoff, Derek Boothroyd, Kristen W Yeom, Juliet K Knowles
White matter undergoes rapid development in the neonatal period. Its structure during and after development is influenced by neuronal activity. Pathological neuronal activity, as in seizures, might alter white matter, which in turn may contribute to network dysfunction. Neonatal epilepsy presents an opportunity to investigate seizures and early white matter development. Our objective was to determine whether neonatal seizures in the absence of brain injury or congenital anomalies are associated with altered white matter microstructure...
October 23, 2020: Epilepsia
https://read.qxmd.com/read/33098105/seizure-detection-and-mobile-health-devices-in-epilepsy-recent-developments-and-future-perspectives
#7
Philippe Ryvlin, Sándor Beniczky
No abstract text is available yet for this article.
October 23, 2020: Epilepsia
https://read.qxmd.com/read/33098099/characteristics-and-treatment-outcomes-of-newly-diagnosed-epilepsy-in-older-people-a-30-year-longitudinal-cohort-study
#8
Bshra Ali A Alsfouk, Haris Hakeem, Zhibin Chen, Matthew Walters, Martin J Brodie, Patrick Kwan
OBJECTIVES: To describe the clinical characteristics and evaluate the long-term treatment outcomes in older people with newly diagnosed epilepsy over the past 30 years. METHODS: We included patients newly diagnosed with epilepsy and commenced on antiseizure medications (ASMs) at age 65 years or older between July 1982 and October 2012 at the Western infirmary in Glasgow, Scotland. They were followed up until April 2016 or death. Seizure freedom was defined as no seizure for at least 1 year on unchanged medication at the last follow-up...
October 23, 2020: Epilepsia
https://read.qxmd.com/read/33097749/high-frequency-oscillations-in-epileptic-and-non-epileptic-human-hippocampus-during-a-cognitive-task
#9
Martin Pail, Jan Cimbálník, Robert Roman, Pavel Daniel, Daniel J Shaw, Jan Chrastina, Milan Brázdil
Hippocampal high-frequency electrographic activity (HFOs) represents one of the major discoveries not only in epilepsy research but also in cognitive science over the past few decades. A fundamental challenge, however, has been the fact that physiological HFOs associated with normal brain function overlap in frequency with pathological HFOs. We investigated the impact of a cognitive task on HFOs with the aim of improving differentiation between epileptic and non-epileptic hippocampi in humans. Hippocampal activity was recorded with depth electrodes in 15 patients with focal epilepsy during a resting period and subsequently during a cognitive task...
October 23, 2020: Scientific Reports
https://read.qxmd.com/read/33097601/dementia-and-epilepsy-not-a-one-way-street
#10
EDITORIAL
W Allen Hauser, Alberto Lleo, Heike Schmolck
No abstract text is available yet for this article.
October 23, 2020: Neurology
https://read.qxmd.com/read/33097599/the-bi-directional-association-between-epilepsy-and-dementia-the-framingham-heart-study
#11
Maria Stefanidou, Alexa S Beiser, Jayandra Jung Himali, Teng J Peng, Orrin Devinsky, Sudha Seshadri, Daniel Friedman
OBJECTIVES: To assess the risk of incident epilepsy among participants with prevalent dementia, and the risk of incident dementia among participants with prevalent epilepsy in the Framingham Heart Study (FHS) . METHODS: We analyzed prospectively collected data in the Original and Offspring FHS cohorts. To determine the risk of developing epilepsy among participants with dementia and the risk of developing dementia among participants with epilepsy we used separate, nested, case-control designs and matched each case to 3 age-, sex- and FHS cohort-matched controls...
October 23, 2020: Neurology
https://read.qxmd.com/read/33097598/contribution-of-ictal-source-imaging-for-localizing-seizure-onset-zone-in-patients-with-focal-epilepsy-patients
#12
Shuai Ye, Lin Yang, Yunfeng Lu, Michal T Kucewicz, Benjamin Brinkmann, Cindy Nelson, Abbas Sohrabpour, Gregory A Worrell, Bin He
OBJECTIVE: To determine whether seizure onset zone can be accurately localized prior to surgical planning in focal epilepsy patients, we performed non-invasive EEG recordings and source localization analyses on 39 patients. METHODS: In a total of 39 focal epilepsy patients, we recorded and extracted 138 seizures and 1,325 interictal epileptic discharges using high-density EEG. We have investigated a novel approach for directly imaging sources of seizures and interictal spikes from high density EEG recordings, and rigorously validated it for noninvasive localization of seizure onset zone (SOZ) determined from intracranial EEG findings and surgical resection volume...
October 23, 2020: Neurology
https://read.qxmd.com/read/33097597/dementia-in-late-onset-epilepsy-the-atherosclerosis-risk-in-communities-study
#13
Emily L Johnson, Gregory L Krauss, Anna Kucharska-Newton, Marilyn S Albert, Jason Brandt, Keenan A Walker, Sevil Yasar, David S Knopman, Keith A Vossel, Rebecca F Gottesman
OBJECTIVE: To determine the risk of dementia after the development of late-onset epilepsy. METHODS: We used data from the Atherosclerosis Risk in Communities (ARIC) cohort study, which started in 1987-1989 with 15,792 mostly black and white men and women from 4 U.S. communities. We identified late-onset epilepsy (LOE; seizures starting at age 67 or later) from linked Medicare claims data. We used a Cox proportional hazards regression model to evaluate associations between LOE and dementia through 2017 as ascertained from neuropsychological testing, interviews, and hospital discharge surveillance; and we used multinomial logistic regression to assess the risk of dementia and mild cognitive impairment in the subset with full neuropsychological assessments available...
October 23, 2020: Neurology
https://read.qxmd.com/read/33097556/chip-mutations-affect-the-heat-shock-response-differently-in-human-fibroblasts-and-ipsc-derived-neurons
#14
S Schuster, E Heuten, A Velic, J Admard, M Synofzik, S Ossowski, B Macek, S Hauser, L Schöls
C-terminus of HSC70-interacting protein (CHIP) encoded by the gene STUB1 is a co-chaperone and E3 ligase that acts as a key regulator of cellular protein homeostasis. Mutations in STUB1 cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16) with widespread neurodegeneration manifesting as spastic-ataxic gait disorder, dementia and epilepsy. CHIP-/- mice display severe cerebellar atrophy, show high perinatal lethality and impaired heat stress tolerance. To decipher the pathomechanism underlying SCAR16, we investigated the heat shock response (HSR) in primary fibroblasts of three SCAR16 patients...
October 12, 2020: Disease Models & Mechanisms
https://read.qxmd.com/read/33097034/case-report-anti-n-methyl-d-aspartate-receptor-encephalitis-and-bilateral-temporal-calcifications
#15
Yujie Bu, Tinghua Zhang, Jia Guo
BACKGROUND: In this study, we report a case of a young female who was hospitalized for seizures and diagnosed with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. CASE PRESENTATION: The main feature of this patient was bilateral temporal calcifications detected by routine head computed tomography (CT). The co-existence of anti-NMDAR encephalitis and cerebral calcifications has not been reported. We supposed that the patient had an incomplete form of celiac disease (CD), epilepsy and cerebral calcifications syndrome (CEC)...
October 23, 2020: BMC Neurology
https://read.qxmd.com/read/33096746/genetic-landscape-of-common-epilepsies-advancing-towards-precision-in-treatment
#16
REVIEW
Sarita Thakran, Debleena Guin, Pooja Singh, Priyanka Singh, Samiksha Kukal, Chitra Rawat, Saroj Yadav, Suman S Kushwaha, Achal K Srivastava, Yasha Hasija, Luciano Saso, Srinivasan Ramachandran, Ritushree Kukreti
Epilepsy, a neurological disease characterized by recurrent seizures, is highly heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types: common and rare epilepsies. Common epilepsies affecting nearly 95% people with epilepsy, comprise generalized epilepsy which encompass idiopathic generalized epilepsy like childhood absence epilepsy, juvenile myoclonic epilepsy, juvenile absence epilepsy and epilepsy with generalized tonic-clonic seizure on awakening and focal epilepsy like temporal lobe epilepsy and cryptogenic focal epilepsy...
October 21, 2020: International Journal of Molecular Sciences
https://read.qxmd.com/read/33091836/utility-of-single-photon-emission-computed-tomography-spect-in-presurgical-evaluation-of-children-a-single-center-experience
#17
Ali Mir, Raidah Al Baradie, Abdulrhman Alnaim, Asif Moinuddin, Mohammed I Khan, Tarek Jallul, Faisal Al Otaibi, Mary Joseph, Shaikha Al Dossary, Shahid Bashir
OBJECTIVE: Single-photon emission computed tomography (SPECT) is an ancillary noninvasive test commonly used to identify the epileptogenic zone. However, its proper utilization may be limited depending on the resources available at each center. This study aimed to investigate the utility of SPECT in presurgical evaluation of children at our center. METHODS: This was an observational retrospective study in 150 children who were admitted to the Epilepsy Monitoring Unit for presurgical evaluation between 2012 and 2019...
August 19, 2020: Epilepsy Research
https://read.qxmd.com/read/33091826/representation-based-on-ordinal-patterns-for-seizure-detection-in-eeg-signals
#18
Yunxiao Liu, Youfang Lin, Ziyu Jia, Yan Ma, Jing Wang
EEG signals carry rich information about brain activity and play an important role in the diagnosis and recognition of epilepsy. Numerous algorithms using EEG signals to detect seizures have been developed in recent decades. However, most of them require well-designed features that highly depend on domain-specific knowledge and algorithm expertise. In this study, we introduce the unigram ordinal pattern (UniOP) and bigram ordinal pattern (BiOP) representations to capture the different underlying dynamics of time series, which only assumes that time series derived from different dynamics can be characterized by repeated ordinal patterns...
October 13, 2020: Computers in Biology and Medicine
https://read.qxmd.com/read/33091747/can-change-in-gut-microbiota-composition-be-used-as-a-surrogate-marker-of-treatment-efficacy-of-ketogenic-diet-in-patients-with-drug-resistant-epilepsy
#19
REVIEW
Magith Thambi, Janak Nathan, Kurupath Radhakrishnan
To answer the question posed in the title of the manuscript, we critically examined the connection between ketogenic diet (KD), gut microbiota (GM), and epilepsy. We conclude that although the evidence for a KD-GM-epilepsy link is fairly robust in rodent epilepsy models, it is very hard to draw meaningful conclusions in humans. The limitations of human studies that have investigated the KD-microbiota-epilepsy relationship include small sample size, a heterogeneous patient population with regard to age and epilepsy type, failure to account for the effect of dietary habits, antiseizure drugs (ASDs) and comedications on GM composition, variability in the KD administered and in the duration of the intervention, and different approaches used in sequencing the microbiome...
October 19, 2020: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/33091119/atypical-bullous-dermatosis-from-suspected-drug-reaction-to-misdiagnosed-occult-epilepsy-two-challenging-cases
#20
Laura Giraud-Kerleroux, Chloé Charpentier, Charlotte Bernigaud, Nicolas Ortonne, Camille Hua, Sophie Gaudron, Quang Tuan Rémy Nguyen, Olivier Chosidow, Pierre Wolkenstein, Saskia Ingen-Housz-Oro
Thermal burns can occur during seizure. This diagnosis can be difficult in case of atypical lesions, even more if the epilepsy is unknown and in case of seizures with loss of consciousness and/or an unwitnessed epileptic attack. We report two cases of cutaneous bullous lesions initially misdiagnosed as severe acute cutaneous adverse reactions (generalized bullous fixed drug eruption and Stevens-Johnson syndrome). In the two cases, the clinical aspect, necrotic evolution and absence of obvious attributable medication allowed to revert to the diagnosis of burns due to boiling water revealing previously unknown epilepsy...
October 22, 2020: Journal of Burn Care & Research: Official Publication of the American Burn Association
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