keyword
MENU ▼
Read by QxMD icon Read
search

epilepsy syndrome

keyword
https://www.readbyqxmd.com/read/29791941/understanding-refugees-health
#1
Martin Müller, Dana Khamis, David Srivastava, Aristomenis K Exadaktylos, Carmen Andrea Pfortmueller
According to the United Nations Refugee Agency (UNHCR), 65.6 million people have been forcibly displaced worldwide. Several factors have a major influence on asylum seekers' health; so, their health profile is markedly different from that of the population in the country of asylum. The aim of this study is to review the major issues physicians need to be aware of when treating asylum seekers, with a special focus on the neurological problems of asylum seekers and refugees. The major impact factors on refugees' health are linked to experiences and exposure (1) in the country of origin, (2) in refugee camps and en route to Europe, and (3) in the process of immigration into the host country and living in European asylum centers...
April 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#2
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29787924/sleep-architecture-and-epileptic-characteristics-of-drug-na%C3%A3-ve-patients-in-childhood-absence-epilepsy-spectrum-a-prospective-study
#3
Argirios Dinopoulos, Maria A Tsirouda, Anastasios Bonakis, Roser Pons, Ioanna D Pavlopoulou, Konstantinos Tsoumakas
PURPOSE: Childhood absence epilepsy (CAE) is an epileptic syndrome presenting between 2nd-10th years. The spells are elicited with hyperventilation (HV) while sleep seems to exacerbate the electrical activity. Our aim is to describe sleep architecture and its relationship with epileptic discharges (EDs) in patients with CAE, before treatment and one year later. METHODS: Twenty-eight, drug-naive children were recruited (21 girls), mean age 90.1 ± 32.6 months...
April 30, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29786807/-pharmacotherapy-of-epilepsy
#4
Torbjörn Tomson, Olof Rask
Pharmacotherapy of epilepsy is usually initiated after two or more unprovoked seizures, a decision that should be made after assessment of the individual risk of further seizures. Antiepileptic drugs (AEDs) are selected based on documented efficacy for the type of seizures, the epilepsy and possible epilepsy syndrome of the patient, taking potential adverse effects and comorbidity into account. For many AEDs, the mechanisms of action are incompletely understood. More than half of patients with newly diagnosed epilepsy achieve sustained seizure freedom with their first or second drug trials...
May 21, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29786805/-classification-of-seizures-and-epilepsies
#5
Johan Zelano, Tommy Stödberg, Torbjörn Tomson
In 2017 the International League Against Epilepsy (ILAE) published position papers outlining new classifications of seizures and epilepsies. The aims of the new documents are to encompass advances in the field, provide a conceptual framework for future developments, and facilitate communication. In practice, the terminology is somewhat revised. For seizures the terms "partial" and "simple/complex" are replaced by "focal" and "aware/impaired awareness". The classification of a patient's epilepsy is based on seizures types (e...
May 21, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29786595/-genetically-determined-abnormal-electrical-activity-of-the-brain-and-the-heart
#6
Iwona Mańka-Gaca, Beata Łabuz-Roszak, Agnieszka Machowska-Majchrzak
Mutations leading to disorders within ion (mainly potassium and sodium) channels, have different degrees of expression in the brain and in the heart, which can cause simultaneous occurrence of disorders in both organs. This is manifested by the occurrence of epileptic seizures and cardiac electrical disturbances, further exacerbated by stimulation of autonomic structures within the central nervous system. In all patients with unclear paroxysmal disorders, and in those with unexplained sudden cardiac death, consideration should be given to the possibility of occurrence of genetically determined disorders in the ion channels...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29785705/association-of-gabaa-receptor-gene-with-epilepsy-syndromes
#7
Musadiq Ahmad Bhat, Sameer Ahmad Guru, Rashid Mir, Ajaz Ahmad Waza, Mariyam Zuberi, Mamta Pervin Sumi, Shaam Bodeliwala, Vinod Puri, Alpana Saxena
GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively. GABAA is considered as one of the most important proteins and has found to play an important role in many neurological disorders. We explored the association of GABAA receptor gene mutation/SNPs in JME and LGS patients in Indian population. A total of 100 epilepsy syndrome patients (50 JME and 50 LGS) and 100 healthy control subjects were recruited and analyzed by AS-PCR and RFLP-PCR techniques...
May 21, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29783181/autistic-traits-in-epilepsy-models-why-when-and-how
#8
REVIEW
Jana Velíšková, Jill L Silverman, Melissa Benson, Pierre-Pascal Lenck-Santini
Autism spectrum disorder (ASD) is a common comorbidity of epilepsy and seizures and/or epileptiform activity are observed in a significant proportion of ASD patients. Current research also implies that autistic traits can be observed to a various degree in mice and rats with seizures. This suggests that there are shared mechanisms in both ASD and epilepsy syndromes. Here, we first review the standard, validated methods used to assess autistic traits in animal models as well as their limitations with regards to epilepsy models...
May 18, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29781149/supporting-advanced-dementia-in-people-with-down-syndrome-and-other-intellectual-disability-consensus-statement-of-the-international-summit-on-intellectual-disability-and-dementia
#9
M McCarron, P McCallion, A Coppus, J Fortea, S Stemp, M Janicki, K Wtachman
BACKGROUND: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorised as that stage of dementia progression characterised by significant losses in cognitive and physical function, including a high probability of further deterioration and leading to death. METHOD: The question before the Summit was whether there were similarities and differences in expressions of advanced dementia between adults with intellectual disability (ID) and adults in the general population...
May 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29780332/myoclonic-jerks-and-schizophreniform-syndrome-case-report-and-literature-review
#10
Dominique Endres, Dirk-M Altenmüller, Bernd Feige, Simon J Maier, Kathrin Nickel, Sabine Hellwig, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P Doerr, Karl Egger, Ludger Tebartz van Elst
Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29779390/-prenatally-diagnosed-case-of-pallister%C3%A2-killian-syndrome
#11
Zsolt Tidrenczel, Erika P Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, János Demeter
Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype...
May 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#12
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#13
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#14
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29771335/loss-of-fragile-x-protein-fmrp-impairs-homeostatic-synaptic-downscaling-through-tumor-suppressor-p53-and-ubiquitin-e3-ligase-nedd4-2
#15
Kwan Young Lee, Kathryn A Jewett, Hee Jung Chung, Nien-Pei Tsai
Synaptic scaling allows neurons to homeostatically readjust synaptic strength upon chronic neural activity perturbations. Although altered synaptic scaling has been implicated to underlie imbalanced brain excitability in neurological disorders such as autism spectrum disorders and epilepsy, the molecular dysregulation and restoration of synaptic scaling in those diseases have not been demonstrated. Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, Fragile X Syndrome (FXS)...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29770251/review-of-the-neurological-benefits-of-phytocannabinoids
#16
REVIEW
Joseph Maroon, Jeff Bost
Background: Numerous physical, psychological, and emotional benefits have been attributed to marijuana since its first reported use in 2,600 BC in a Chinese pharmacopoeia. The phytocannabinoids, cannabidiol (CBD), and delta-9-tetrahydrocannabinol (Δ9-THC) are the most studied extracts from cannabis sativa subspecies hemp and marijuana. CBD and Δ9-THC interact uniquely with the endocannabinoid system (ECS). Through direct and indirect actions, intrinsic endocannabinoids and plant-based phytocannabinoids modulate and influence a variety of physiological systems influenced by the ECS...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29768152/effect-of-cannabidiol-on-drop-seizures-in-the-lennox-gastaut-syndrome
#17
Orrin Devinsky, Anup D Patel, J Helen Cross, Vicente Villanueva, Elaine C Wirrell, Michael Privitera, Sam M Greenwood, Claire Roberts, Daniel Checketts, Kevan E VanLandingham, Sameer M Zuberi
BACKGROUND: Cannabidiol has been used for treatment-resistant seizures in patients with severe early-onset epilepsy. We investigated the efficacy and safety of cannabidiol added to a regimen of conventional antiepileptic medication to treat drop seizures in patients with the Lennox-Gastaut syndrome, a severe developmental epileptic encephalopathy. METHODS: In this double-blind, placebo-controlled trial conducted at 30 clinical centers, we randomly assigned patients with the Lennox-Gastaut syndrome (age range, 2 to 55 years) who had had two or more drop seizures per week during a 28-day baseline period to receive cannabidiol oral solution at a dose of either 20 mg per kilogram of body weight (20-mg cannabidiol group) or 10 mg per kilogram (10-mg cannabidiol group) or matching placebo, administered in two equally divided doses daily for 14 weeks...
May 17, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29766384/increased-functional-meg-connectivity-as-a-hallmark-of-mri-negative-focal-and-generalized-epilepsy
#18
Yiwen Li Hegner, Justus Marquetand, Adham Elshahabi, Silke Klamer, Holger Lerche, Christoph Braun, Niels K Focke
Epilepsy is one of the most prevalent neurological diseases with a high morbidity. Accumulating evidence has shown that epilepsy is an archetypical neural network disorder. Here we developed a non-invasive cortical functional connectivity analysis based on magnetoencephalography (MEG) to assess commonalities and differences in the network phenotype in different epilepsy syndromes (non-lesional/cryptogenic focal and idiopathic/genetic generalized epilepsy). Thirty-seven epilepsy patients with normal structural brain anatomy underwent a 30-min resting state MEG measurement with eyes closed...
May 15, 2018: Brain Topography
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#19
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29761351/economic-evaluation-of-stiripentol-for-dravet-syndrome-a-cost-utility-analysis
#20
Jesse Elliott, Bláthnaid McCoy, Tammy Clifford, George A Wells, Doug Coyle
BACKGROUND: Dravet syndrome is a catastrophic form of pediatric treatment-resistant epilepsy with few effective treatment options. Stiripentol is approved for use in Canada for treatment of Dravet syndrome, but the associated long-term costs and benefits have not been well-studied and its cost effectiveness is unclear. OBJECTIVE: The aim of this study was to evaluate the cost effectiveness of stiripentol as an adjunctive treatment to clobazam and valproate for treatment of Dravet syndrome from the perspective of the Canadian public healthcare payer...
May 15, 2018: PharmacoEconomics
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"