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https://www.readbyqxmd.com/read/27927575/novel-mutation-in-a-patient-with-late-onset-glut1-deficiency-syndrome
#1
Sandra Juozapaite, Ruta Praninskiene, Birute Burnyte, Laima Ambrozaityte, Birute Skerliene
Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis...
December 5, 2016: Brain & Development
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#2
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27858372/severe-respiratory-acidosis-in-status-epilepticus-as-a-possible-etiology-of-sudden-death-in-lesch-nyhan-disease-a-case-report-and-review-of-the-literature
#3
Alison Christy, William Nyhan, Jenny Wilson
INTRODUCTION: Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients with LND are at risk for sudden and unexpected death. The etiology of this is unknown, but appears to occur from a respiratory process. We propose that respiratory failure secondary to subclinical seizure may lead to sudden death in these patients. CASE: We report a case of an 11-year-old boy with LND who had two episodes of nocturnal gasping...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27852771/reduced-efficacy-of-the-kcc2-cotransporter-promotes-epileptic-oscillations-in-a-subiculum-network-model
#4
Anatoly Buchin, Anton Chizhov, Gilles Huberfeld, Richard Miles, Boris S Gutkin
: Pharmacoresistant epilepsy is a chronic neurological condition in which a basal brain hyperexcitability results in paroxysmal hypersynchronous neuronal discharges. Human temporal lobe epilepsy has been associated with dysfunction or loss of the potassium-chloride cotransporter KCC2 in a subset of pyramidal cells in the subiculum, a key structure generating epileptic activities. KCC2 regulates intraneuronal chloride and extracellular potassium levels by extruding both ions. Absence of effective KCC2 may alter the dynamics of chloride and potassium levels during repeated activation of GABAergic synapses due to interneuron activity...
November 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27636181/modification-of-electrophysiological-activity-pattern-after-anterior-thalamic-deep-brain-stimulation-for-intractable-epilepsy-report-of-3-cases
#5
Hae Yu Kim, Yun Jung Hur, Heung-Dong Kim, Kang Min Park, Sung Eun Kim, Tae Gyu Hwang
OBJECTIVE Thalamic stimulation can provoke electroencephalography (EEG) synchronization or desynchronization, which can help to reduce the occurrence of seizures in intractable epilepsy, though the underlying mechanism is not fully understood. Therefore, the authors investigated changes in EEG electrical activity to better understand the seizure-reducing effects of deep brain stimulation (DBS) in patients with intractable epilepsy. METHODS Electrical activation patterns in the epileptogenic brains of 3 patients were analyzed using classical low-resolution electromagnetic tomography analysis recursively applied (CLARA)...
September 16, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27601154/seizure-freedom-after-limited-hippocampal-radiofrequency-thermocoagulation
#6
Han-Tao Li, Ching-Yi Lee, Siew-Na Lim, Chun-Wei Chang, Shih-Tseng Lee, Tony Wu
BACKGROUND: Surgical interventions are often used for freedom from seizure in patients with drug-resistant mesial temporal lobe epilepsy. A patient with seizure foci in the left mesiotemporal region underwent limited-size stereotactic radiofrequency thermocoagulation (RF-TC) over the left hippocampus. CASE DESCRIPTION: A 37-year-old woman with febrile convulsion in her childhood was admitted to our neurologic department with complex partial seizure with secondary generalization...
September 4, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27582020/temperature-dependent-changes-in-neuronal-dynamics-in-a-patient-with-an-scn1a-mutation-and-hyperthermia-induced-seizures
#7
C Peters, R E Rosch, E Hughes, P C Ruben
Dravet syndrome is the prototype of SCN1A-mutation associated epilepsies. It is characterised by prolonged seizures, typically provoked by fever. We describe the evaluation of an SCN1A mutation in a child with early-onset temperature-sensitive seizures. The patient carries a heterozygous missense variant (c3818C > T; pAla1273Val) in the NaV1.1 brain sodium channel. We compared the functional effects of the variant vs. wild type NaV1.1 using patch clamp recordings from channels expressed in Chinese Hamster Ovary Cells at different temperatures (32, 37, and 40 °C)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27548095/administration-of-copper-reduced-the-hyper-excitability-of-neurons-in-ca1-hippocampal-slices-from-epileptic-rats
#8
Juan Leiva, Claudio Infante
Copper as a trace metal is involved in several neurodegenerative illnesses, such as Menkes, Wilson's, Alzheimer's, amyotrophic lateral sclerosis (ALS), and Creutzfeldt-Jakob. Electrophysiological evidence indicates that acute perfusion of copper can inhibit long-term synaptic potentiation in hippocampal slices. The objective of this work is to determine whether Cu perfusion can perturb synaptic transmission in hippocampal slices derived from pilocarpine treated epileptic rats. Field potential (FP) recordings of the CA1 neurons of rats with chronic epilepsy showed voltage and response duration decrease following copper sulfate perfusion...
April 1, 2016: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/27506513/challenges-in-the-first-seizure-clinic-for-adult-patients-with-epilepsy
#9
Anvesh Jackson, Louise Teo, Udaya Seneviratne
AIMS: (1) To delineate the challenges in seizure diagnosis in the first seizure clinic setting for adult patients of a teaching hospital, and (2) quantify the diagnostic accuracy of the referral source and the yield of routine investigations, including blood tests, EEGs, and neuroimaging. METHODS: We retrospectively reviewed medical records of patients referred by the emergency department to the adult first seizure clinic and seen by the same epilepsy specialist between June 2007 and June 2011...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27500879/-significance-of-sleep-deprivation-in-the-development-of-local-epilepsy-from-neuroplasticity-opinion
#10
A V Vasilenko, L S Onishchenko, S A Zhivolupov, S V Lobzin, N N Zabolotsky, T V Bodrova
AIM: Learning cycle «sleep-wake» is of great theoretical and practical importance because it allows to understand the general patterns of adaptive mechanisms of human interaction with the environment (neuroplasticity), violations of which are the basis of many diseases of the CNS, including epilepsy. MATERIAL AND METHODS: Complex clinical and electroencephalographic (video-EEG monitoring with mandatory recording of sleep) study was carried out before and after prolonged sleep deprivation (for at least 1 day) of 178 patients with locally due to epilepsy (LEi)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27445726/rapid-amygdala-kindling-causes-motor-seizure-and-comorbidity-of-anxiety-and-depression-like-behaviors-in-rats
#11
Shang-Der Chen, Yu-Lin Wang, Sheng-Fu Liang, Fu-Zen Shaw
Amygdala kindling is a model of temporal lobe epilepsy (TLE) with convulsion. The rapid amygdala kindling has an advantage on quick development of motor seizures and for antiepileptic drugs screening. The rapid amygdala kindling causes epileptogenesis accompanied by an anxiolytic response in early isolation of rat pups or depressive behavior in immature rats. However, the effect of rapid amygdala kindling on comorbidity of anxiety- and depression-like behaviors is unexplored in adult rats with normal breeding...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27232377/age-at-onset-and-seizure-frequency-affect-white-matter-diffusion-coefficient-in-patients-with-mesial-temporal-lobe-epilepsy
#12
Szilvia A Nagy, Réka Horváth, Gábor Perlaki, Gergely Orsi, Péter Barsi, Flóra John, Andrea Horváth, Norbert Kovács, Péter Bogner, Hajnalka Ábrahám, Beáta Bóné, Csilla Gyimesi, Tamás Dóczi, József Janszky
In mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS), structural abnormalities are present not only in the hippocampus but also in the white matter with ipsilateral predominance. Although the timing of epilepsy onset is commonly associated with clinical and semiological dissimilarities, limited data exist regarding white matter diffusion changes with respect to age at epilepsy onset. The aim of this study was to investigate diffusion changes in the white matter of patients with unilateral MTLE-HS with respect to clinical parameters and to compare them with an age- and sex-matched healthy control group...
August 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27179311/csf-and-plasma-adipokines-after-tonic-clonic-seizures
#13
Johanna Palmio, Katriina Vuolteenaho, Kai Lehtimäki, Riina Nieminen, Jukka Peltola, Eeva Moilanen
PURPOSE: Adipokines, especially leptin and adiponectin, have gained increasing importance in pathophysiology of various neurological diseases including epilepsy. There are experimental data suggesting a role for leptin in the genesis of seizures and neuroprotection related to seizures. However there are no clinical studies on the effects of epileptic seizures on adipokines. METHODS: We measured cerebrospinal fluid (CSF) and plasma levels of leptin, adiponectin and adipsin after provoked or unprovoked primary or secondarily generalized tonic-clonic seizures in 13 female patients and seven controls...
July 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27147960/the-biochemistry-and-epigenetics-of-epilepsy-focus-on-adenosine-and-glycine
#14
REVIEW
Detlev Boison
Epilepsy, one of the most prevalent neurological conditions, presents as a complex disorder of network homeostasis characterized by spontaneous non-provoked seizures and associated comorbidities. Currently used antiepileptic drugs have been designed to suppress neuronal hyperexcitability and thereby to suppress epileptic seizures. However, the current armamentarium of antiepileptic drugs is not effective in over 30% of patients, does not affect the comorbidities of epilepsy, and does not prevent the development and progression of epilepsy (epileptogenesis)...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27084979/should-we-stop-saying-epileptic-a-comparison-of-the-effect-of-the-terms-epileptic-and-person-with-epilepsy
#15
Adam J Noble, Anthony G Marson
OBJECTIVE: The advantages and disadvantages of using "epileptic" as a noun to describe someone with epilepsy have long been debated. Recent high-profile recommendations have stated that the term should not be used, including in English, as it perpetuates stigma. This decision was largely informed by a Brazilian Global Campaign Against Epilepsy study that reported experimental evidence indicating that, with students, the label evokes more negative attitudes than "person with epilepsy"...
June 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27039230/reflex-myoclonic-epilepsy-of-infancy-seizures-induced-by-tactile-stimulation
#16
Emanuela Claudia Turco, Elena Pavlidis, Carlotta Facini, Carlotta Spagnoli, Anna Andreolli, Rosalia Geraci, Francesco Pisani
Myoclonic epilepsy with reflex seizures in infancy is an extremely rare condition, in which seizures are provoked mainly by auditory or auditory-tactile stimuli. To increase the awareness of pediatricians regarding this underrecognized condition, we describe a child with seizures provoked only by the tactile stimulation of specific areas of the head and face.
June 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27022307/progress-in-elucidating-the-pathophysiological-basis-of-nonrapid-eye-movement-parasomnias-not-yet-informing-therapeutic-strategies
#17
REVIEW
András Horváth, Anikó Papp, Anna Szűcs
Nonrapid eye movement (NREM) or arousal parasomnias are prevalent conditions in children and young adults, apparently provoked by any medical, physical, mental, or pharmacologic/toxic agent disturbing normal biorhythm and causing sleep fragmentation or abundant amount of slow wave sleep. The nadir and the ascending slope of the first sleep cycle of night sleep are the typical periods when NREM parasomnias, especially sleepwalking may occur on sleep-microstructural level; microarousals are the typical moments allowing NREM parasomnias...
2016: Nature and Science of Sleep
https://www.readbyqxmd.com/read/26957324/all-together-now-analogies-between-chimera-state-collapses-and-epileptic-seizures
#18
Ralph G Andrzejak, Christian Rummel, Florian Mormann, Kaspar Schindler
Conceptually and structurally simple mathematical models of coupled oscillator networks can show a rich variety of complex dynamics, providing fundamental insights into many real-world phenomena. A recent and not yet fully understood example is the collapse of coexisting synchronous and asynchronous oscillations into a globally synchronous motion found in networks of identical oscillators. Here we show that this sudden collapse is promoted by a further decrease of synchronization, rather than by critically high synchronization...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26953368/-epilepsy-and-driving-ability-the-new-guideline
#19
REVIEW
Martin Kurthen
The Swiss Guideline concerning epilepsy and driving has recently been revised. Recommendations have changed significantly in several respects. Some modifications arise indirectly from a change in the overall concept of epilepsy. As a consequence of the application of the new ILAE definition and diagnostic criteria for epilepsy, there are now cases in which the diagnosis of epilepsy is established even after one single seizure. Furthermore, a concept of imminent epilepsy was introduced to identify patients without seizures, but with a high risk of a first seizure within twelve months...
October 28, 2015: Praxis
https://www.readbyqxmd.com/read/26947066/dual-and-opposing-roles-of-microrna-124-in-epilepsy-are-mediated-through-inflammatory-and-nrsf-dependent-gene-networks
#20
Gary P Brennan, Deblina Dey, Yuncai Chen, Katelin P Patterson, Eric J Magnetta, Alicia M Hall, Celine M Dube, Yu-Tang Mei, Tallie Z Baram
Insult-provoked transformation of neuronal networks into epileptic ones involves multiple mechanisms. Intervention studies have identified both dysregulated inflammatory pathways and NRSF-mediated repression of crucial neuronal genes as contributors to epileptogenesis. However, it remains unclear how epilepsy-provoking insults (e.g., prolonged seizures) induce both inflammation and NRSF and whether common mechanisms exist. We examined miR-124 as a candidate dual regulator of NRSF and inflammatory pathways. Status epilepticus (SE) led to reduced miR-124 expression via SIRT1--and, in turn, miR-124 repression--via C/EBPα upregulated NRSF...
March 15, 2016: Cell Reports
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