keyword
MENU ▼
Read by QxMD icon Read
search

New onset epilepsy

keyword
https://www.readbyqxmd.com/read/27915111/clinical-outcomes-of-perampanel-vs-lacosamide-in-cohorts-of-consecutive-patients-with-severely-refractory-epilepsies-a-monocentric-retrospective-analysis-of-systematically-collected-data-from-the-german-kork-epilepsy-center
#1
Christoph Kurth, Edgar Kockelmann, Bernhard J Steinhoff
PURPOSE: Perampanel (PER) and lacosamide (LCM) are antiepileptic drugs (AEDs) approved for the adjunctive treatment of partial-onset seizures. At the time of market entry, information on clinical effectiveness of new AEDs is limited to results from pivotal trials, real-life or comparative data are missing. This analysis of data collected retrospectively in a German epilepsy center used unified evaluation criteria, and describes treatment outcomes with LCM and PER at 6 months. METHODS: Results of the first 70 consecutive patients who had received LCM or PER after their market entries in Germany were compared...
November 23, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#2
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27876882/nr4a1-knockdown-suppresses-seizure-activity-by-regulating-surface-expression-of-nr2b
#3
Yanke Zhang, Guojun Chen, Baobing Gao, Yunlin Li, Shuli Liang, Xiaofei Wang, Xuefeng Wang, Binglin Zhu
Nuclear receptor subfamily 4 group A member 1 (NR4A1), a downstream target of CREB that is a key regulator of epileptogenesis, has been implicated in a variety of biological processes and was previously identified as a seizure-associated molecule. However, the relationship between NR4A1 and epileptogenesis remains unclear. Here, we showed that NR4A1 protein was predominantly expressed in neurons and up-regulated in patients with epilepsy as well as pilocarpine-induced mouse epileptic models. NR4A1 knockdown by lentivirus transfection (lenti-shNR4A1) alleviated seizure severity and prolonged onset latency in mouse models...
November 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27868350/an-elderly-jervell-and-lange-nielsen-patient-heterozygous-compound-for-two-new-kcnq1-mutations
#4
Eliecer Coto, Francisco J García-Fernández, David Calvo, Ricardo Salgado-Aranda, Javier Martín-González, Belén Alonso, Sara Iglesias, Juan Gómez
We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#5
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati, Edward C Cooper, Maurizio Taglialatela
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function). We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. With use of an international registry, we identified four unrelated patients with the same de novo heterozygous KCNQ2 c...
November 9, 2016: Epilepsia
https://www.readbyqxmd.com/read/27861775/prevalence-of-juvenile-myoclonic-epilepsy-in-people-30-years-of-age-a-population-based-study-in-norway
#6
Marte Syvertsen, Morten Kristoffer Hellum, Gunnar Hansen, Astrid Edland, Karl Otto Nakken, Kaja Kristine Selmer, Jeanette Koht
OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age...
November 16, 2016: Epilepsia
https://www.readbyqxmd.com/read/27857123/low-grade-epilepsy-associated-neuroepithelial-tumours-the-2016-who-classification
#7
REVIEW
Ingmar Blümcke, Eleonora Aronica, Albert Becker, David Capper, Roland Coras, Mrinalini Honavar, Thomas S Jacques, Katja Kobow, Hajime Miyata, Angelika Mühlebner, José Pimentel, Figen Söylemezoğlu, Maria Thom
Rapid developments in molecular genetic technology and research have swiftly advanced our understanding of neuro-oncology. As a consequence, the WHO invited their expert panels to revise the current classification system of brain tumours and to introduce, for the first time, a molecular genetic approach for selected tumour entities, thus setting a new gold standard in histopathology. The revised 5th edition of the 'blue book' was released in May 2016 and will have a major impact in stratifying diagnosis and treatment...
November 18, 2016: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/27830114/disruptions-in-cortico-subcortical-covariance-networks-associated-with-anxiety-in-new-onset-childhood-epilepsy
#8
Camille Garcia-Ramos, Jack J Lin, Leonardo Bonilha, Jana E Jones, Daren C Jackson, Vivek Prabhakaran, Bruce P Hermann
Anxiety disorders represent a prevalent psychiatric comorbidity in both adults and children with epilepsy for which the etiology remains controversial. Neurobiological contributions have been suggested, but only limited evidence suggests abnormal brain volumes particularly in children with epilepsy and anxiety. Since the brain develops in an organized fashion, covariance analyses between different brain regions can be investigated as a network and analyzed using graph theory methods. We examined 46 healthy children (HC) and youth with recent onset idiopathic epilepsies with (n = 24) and without (n = 62) anxiety disorders...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27815844/incidence-and-geographic-distribution-of-succinic-semialdehyde-dehydrogenase-ssadh-deficiency
#9
Savita Verma Attri, Pratibha Singhi, Natrujee Wiwattanadittakul, Jyotindra N Goswami, Naveen Sankhyan, Gajja S Salomons, Jean-Baptiste Roullett, Ryan Hodgeman, Mahsa Parviz, K Michael Gibson, Phillip L Pearl
The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27787513/the-cyclic-vomiting-syndrome-threshold-a-framework-for-understanding-pathogenesis-and-predicting-successful-treatments
#10
David J Levinthal
Cyclic vomiting syndrome (CVS) is an uncommon, idiopathic disorder defined by recurrent, sudden-onset attacks of repetitive retching and vomiting that are separated by symptom-free intervals. CVS was long regarded as a disorder primarily experienced by children but is now known to present de novo in adulthood. Adult CVS has garnered more research attention over the past 20 years, and these efforts have identified some acute and prophylactic treatments for this disorder. However, CVS still lacks a unifying disease model, and this has hindered the development of new therapies...
October 27, 2016: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/27773903/efficacy-of-potassium-bromide-in-the-treatment-of-drug-resistant-epilepsy-a-case-of-new-onset-refractory-status-epilepticus
#11
Jun Takei, Ran Takei, Satoshi Nozuma, Keiichi Nakahara, Osamu Watanabe, Hiroshi Takashima
A 40-year-old man presented with a series of generalized tonic-clonic seizures after febrile illness. He developed status epilepticus and required mechanical ventilation with anesthetics. Steroid pulse, intravenous immunoglobulin, and immunoadsorption therapy were administrated, and the status epilepticus improved; however, drug-resistant seizures remained. Despite the use of several antiepileptic drugs, seizures frequently occurred. Additional administration of potassium bromide resulted in significant suppression of seizures...
November 29, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27768751/chronology-of-onset-of-mental-disorders-and-physical-diseases-in-mental-physical-comorbidity-a-national-representative-survey-of-adolescents
#12
Marion Tegethoff, Esther Stalujanis, Angelo Belardi, Gunther Meinlschmidt
BACKGROUND: The objective was to estimate temporal associations between mental disorders and physical diseases in adolescents with mental-physical comorbidities. METHODS: This article bases upon weighted data (N = 6483) from the National Comorbidity Survey Adolescent Supplement (participant age: 13-18 years), a nationally representative United States cohort. Onset of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition lifetime mental disorders was assessed with the fully structured World Health Organization Composite International Diagnostic Interview, complemented by parent report...
2016: PloS One
https://www.readbyqxmd.com/read/27762437/symptomatic-and-presumed-symptomatic-focal-epilepsies-in-childhood-an-observational-prospective-multicentre-study
#13
Marilena Vecchi, Carmen Barba, Debora De Carlo, Micol Stivala, Renzo Guerrini, Emilio Albamonte, Domiziana Ranalli, Domenica Battaglia, Giada Lunardi, Clementina Boniver, Benedetta Piccolo, Francesco Pisani, Gaetano Cantalupo, Giuliana Nieddu, Susanna Casellato, Silvia Cappanera, Elisabetta Cesaroni, Nelia Zamponi, Domenico Serino, Lucia Fusco, Alessandro Iodice, Filippo Palestra, Lucio Giordano, Elena Freri, Ilaria De Giorgi, Francesca Ragona, Tiziana Granata, Isabella Fiocchi, Stefania Maria Bova, Massimo Mastrangelo, Alberto Verrotti, Sara Matricardi, Elena Fontana, Davide Caputo, Francesca Darra, Bernardo Dalla Bernardina, Francesca Beccaria, Giuseppe Capovilla, Maria Pia Baglietto, Alessandra Gagliardi, Aglaia Vignoli, Maria Paola Canevini, Egle Perissinotto, Stefano Francione
OBJECTIVE: To describe the clinical, neuropsychological, and psychopathologic features of a cohort of children with a new diagnosis of symptomatic or presumed symptomatic focal epilepsy at time of recruitment and through the first month. The selected population will be followed for 2-5 years after enrollment to investigate the epilepsy course and identify early predictors of drug resistance. METHODS: In this observational, multicenter, nationwide study, children (age 1 month-12...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27725948/correlation-between-volumetric-oxygenation-responses-and-electrophysiology-identifies-deep-thalamocortical-activity-during-epileptic-seizures
#14
Sven Gottschalk, Thomas Felix Fehm, Xose Luís Deán-Ben, Vassiliy Tsytsarev, Daniel Razansky
Visualization of whole brain activity during epileptic seizures is essential for both fundamental research into the disease mechanisms and the development of efficient treatment strategies. It has been previously discussed that pathological synchronization originating from cortical areas may reinforce backpropagating signaling from the thalamic neurons, leading to massive seizures through enhancement of high frequency neural activity in the thalamocortical loop. However, the study of deep brain neural activity is challenging with the existing functional neuroimaging methods due to lack of adequate spatiotemporal resolution or otherwise insufficient penetration into subcortical areas...
January 2017: Neurophotonics
https://www.readbyqxmd.com/read/27718271/neuropsychiatric-aspects-of-22q11-2-deletion-syndrome-considerations-in-the-prenatal-setting
#15
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27708381/weighted-and-directed-interactions-in-evolving-large-scale-epileptic-brain-networks
#16
Henning Dickten, Stephan Porz, Christian E Elger, Klaus Lehnertz
Epilepsy can be regarded as a network phenomenon with functionally and/or structurally aberrant connections in the brain. Over the past years, concepts and methods from network theory substantially contributed to improve the characterization of structure and function of these epileptic networks and thus to advance understanding of the dynamical disease epilepsy. We extend this promising line of research and assess-with high spatial and temporal resolution and using complementary analysis approaches that capture different characteristics of the complex dynamics-both strength and direction of interactions in evolving large-scale epileptic brain networks of 35 patients that suffered from drug-resistant focal seizures with different anatomical onset locations...
October 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27707529/antineuronal-nuclear-autoantibody-type-1-anti-hu-associated-opsoclonus-myoclonus-and-epilepsia-partialis-continua-case-report-and-literature-review
#17
Michael Sweeney, Matthew Sweney, M Mateo Paz Soldán, Stacey L Clardy
BACKGROUND: Opsoclonus-myoclonus syndrome is a rare clinical condition that has been associated with neuroblastoma. There are few reported examples of ANNA-1/anti-Hu antibodies in children with neuroblastoma and opsoclonus-myoclonus, all in children aged less than three years of age. METHODS: We describe the new onset of focal seizures without alteration of consciousness and opsoclonus-myoclonus in an 11-year-old girl with ANNA-1/anti-Hu positivity and a paraspinal ganglioneuroblastoma...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27703598/cognitive-function-in-nigerian-children-with-newly-diagnosed-epilepsy-a-preliminary-report
#18
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
https://www.readbyqxmd.com/read/27670215/temporal-lobe-atrophy-may-be-underrecognized-in-older-patients-with-new-onset-epilepsy
#19
Emmanuelle Lapointe, Charles Deacon, Louis Royer-Perron, Stephen Cunnane, Christian-Alexandre Castellano, Christian Bocti
No abstract text is available yet for this article.
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27646715/long-term-outcome-of-medically-treated-epilepsy
#20
M Sillanpää, D Schmidt
PURPOSE: To review the long-term outcome of epilepsy in population-based studies. METHOD: Analysis of population-based studies. RESULTS: About two of three patients with new-onset epilepsy will, in the long run, enter five-year terminal remission. Chances for remission are best for those with idiopathic or cryptogenic epilepsy. It is unclear whether the seizure outcome has improved over the last several decades. Social outcome, however, may have become better because of the improved level of knowledge on and public attitudes toward people with epilepsy, and possibly fewer prejudices at home, daycare, school, military and labor market...
September 9, 2016: Seizure: the Journal of the British Epilepsy Association
keyword
keyword
97515
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"