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https://www.readbyqxmd.com/read/29741207/genetic-generalized-epilepsies
#1
Saul A Mullen, Samuel F Berkovic
The genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. Copy number variants are found in around 3% of cases, acting as risk alleles. Copy number variation is much more common in those with comorbid learning disability...
May 9, 2018: Epilepsia
https://www.readbyqxmd.com/read/29686036/valproate-and-epilepsy-for-women-as-well-as-men
#2
Charlotte Lawthom
Sodium valproate remains the best drug for idiopathic generalised epilepsy. For men with the latter diagnosis, this is the drug of choice. Sodium valproate has an unacceptably high level of major fetal malformation and also causes learning disabilities in many children exposed to the drug in utero. Women of reproductive age should not normally be offered this drug. There are many women with refractory epilepsy who would benefit from this drug and who are not planning pregnancy. Individualised epilepsy care is the gold standard, not blanket bans on drug choice based on gender...
April 23, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29560374/-de-novo-variants-in-camk2a-and-camk2b-cause-neurodevelopmental-disorders
#3
Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Objective: α ( CAMK2A ) and β ( CAMK2B ) isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α - and β -CaMKII variants in neurodevelopmental disorders. Methods: Whole-exome sequencing was performed for 976 individuals with intellectual disability, developmental delay, and epilepsy. The effect of CAMK2A and CAMK2B variants on CaMKII structure and firing of neurons was evaluated by computational structural analysis, immunoblotting, and electrophysiological analysis...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29478222/growing-older-with-drug-resistant-epilepsy-cognitive-and-psychosocial-outcomes
#4
Rani A Sarkis, Scott McGinnis, Sara N Rushia, Suna Park, Emile E Ansari, Kim C Willment
We aimed to investigate the cognitive and psychosocial outcomes of patients older than 50 with drug-resistant temporal lobe epilepsy as compared to a younger cohort. One hundred and thirty-one patients with temporal lobe epilepsy (47% age ≥ 50) who underwent comprehensive neuropsychological testing were retrospectively identified. A comparison of percentage of Z scores < - 1.5 between the older and younger cohort on Trail Making Tests A and B, Boston Naming Test, Rey Auditory Verbal Learning Test (RAVLT) delayed recall, and Rey-Osterrieth complex figure test delayed recall was performed as well as the presence of disability due to epilepsy and depression scores...
May 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29471022/temporal-lobe-epilepsy-induced-neurodegeneration-and-cognitive-deficits-implications-for-aging
#5
REVIEW
M Vrinda, S Arun, B N Srikumar, Bindu M Kutty, B S Shankaranarayana Rao
Epilepsy is a neurological condition associated with seizures, neurodegeneration, circuit reorganization, and other structural and functional abnormalities. These elements ultimately lead to behavioural alterations such as anxiety, depression, and importantly cognitive impairment like learning disability and memory impairment. These factors can attribute to acceleration of aging and cognitive impairment in middle-aged people, which is otherwise evident in dementia and Alzheimer's disease among elderly people...
February 19, 2018: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/29466895/altered-plasma-type-gelsolin-and-amyloid-%C3%AE-in-neonates-with-hypoxic-ischaemic-encephalopathy-under-therapeutic-hypothermia
#6
Isabel Benavente-Fernandez, Juan J Ramos-Rodriguez, Carmen Infante-Garcia, Gema Jimenez-Gomez, Alfonso Lechuga-Sancho, Simon Lubian-Lopez, Monica Garcia-Alloza
Hypoxic-ischemic encephalopathy (HIE) is a severe neonatal complication responsible for ∼23% of all neonatal deaths. Also, 30-70% of these patients will suffer lifetime disabilities, including learning impairment, epilepsy or cerebral palsy. However, biomarkers for HIE screening, or monitoring disease progression are limited. Herein, we sought to evaluate the clinical usefulness of plasma-type gelsolin (pGSN) and amyloid-beta (Aβ) 40 and 42 as prognostic biomarkers for HIE. pGSN has been previously suggested as a feasible marker in other brain injuries and amyloid-beta 40 and 42 are classically assessed in neurodegenerative diseases...
January 1, 2018: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/29457585/training-nurses-in-a-competency-framework-to-support-adults-with-epilepsy-and-intellectual-disability-the-epaid-cluster-rct
#7
Howard Ring, James Howlett, Mark Pennington, Christopher Smith, Marcus Redley, Caroline Murphy, Roxanne Hook, Adam Platt, Nakita Gilbert, Elizabeth Jones, Joanna Kelly, Angela Pullen, Adrian Mander, Cam Donaldson, Simon Rowe, James Wason, Fiona Irvine
BACKGROUND: People with an intellectual (learning) disability (ID) and epilepsy have an increased seizure frequency, higher frequencies of multiple antiepileptic drug (AED) use and side effects, higher treatment costs, higher mortality rates and more behavioural problems than the rest of the population with epilepsy. The introduction of nurse-led care may lead to improvements in outcome for those with an ID and epilepsy; however, this has not been tested in a definitive clinical trial...
February 2018: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/29453111/febrile-infection-related-epilepsy-syndrome-fires-therapeutic-complications-long-term-neurological-and-neuroimaging-follow-up
#8
Hsiu-Fen Lee, Ching-Shiang Chi
PURPOSE: To understand the long-term neurological outcomes and chronological changes of brain MRIs in patients with febrile infection-related epilepsy syndrome (FIRES). METHODS: From December 2000 to May 2016, 29 patients diagnosed with FIRES were collected retrospectively. The demographic distribution, clinical manifestations, neuroimaging findings, and treatment methodology were described. Follow-up clinical outcomes and chronological evolution of neuroimaging findings were analyzed...
March 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#9
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old girl with learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability responsive to albuterol sulfate. Failure of neuromuscular transmission was confirmed by single fiber electromyography...
February 14, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29395075/otud7a-knockout-mice-recapitulate-many-neurological-features-of-15q13-3-microdeletion-syndrome
#10
Jiani Yin, Wu Chen, Eugene S Chao, Sirena Soriano, Li Wang, Wei Wang, Steven E Cummock, Huifang Tao, Kaifang Pang, Zhandong Liu, Fred A Pereira, Rodney C Samaco, Huda Y Zoghbi, Mingshan Xue, Christian P Schaaf
15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay, intellectual disability, epilepsy, language impairment, abnormal behaviors, neuropsychiatric disorders, and hypotonia. This syndrome is caused by a deletion on chromosome 15q, which typically encompasses six genes. Here, through studies on OTU deubiquitinase 7A (Otud7a) knockout mice, we identify OTUD7A as a critical gene responsible for many of the cardinal phenotypes associated with 15q13...
February 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29249504/cognitive-disabilities-and-long-term-outcomes-in-children-with-epilepsy-a-tangled-tail
#11
Carol Camfield, Peter Camfield
Cognitive problems ranging from mild specific learning problems to profound intellectual disability (ID) are very common in children with epilepsy. For most affected patients there is good evidence that the cognitive problems are present at the onset of seizures and do not deteriorate over time. There is no evidence that a few seizures lead to cognitive deterioration. An exception may occur in children with epileptic encephalopathies, although this contention is not always easy to prove. ID is a strong predictor of intractable epilepsy, and the greater the degree of the ID the greater the risk of medication resistant epilepsy...
November 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29232042/evaluation-of-visual-motion-perception-ability-in-mice-with-knockout-of-the-dyslexia-candidate-susceptibility-gene-dcdc2
#12
A R Rendall, P A Perrino, J J LoTurco, R H Fitch
Developmental dyslexia is a heritable disability characterized by difficulties in learning to read and write. The neurobiological and genetic mechanisms underlying dyslexia remain poorly understood; however, several dyslexia candidate risk genes have been identified. One of these candidate risk genes-doublecortin domain containing 2 (DCDC2)-has been shown to play a role in neuronal migration and cilia function. At a behavioral level, variants of DCDC2 have been associated with impairments in phonological processing, working memory and reading speed...
December 12, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29214565/intellectual-disability-rare-disorders-a-diagnostic-challenge
#13
Malin Kvarnung, Ann Nordgren
Rare disorders constitute a large and heterogeneous group of diagnoses of which many cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. Each individual disorder is rare, but when considered as a group, rare disorders are common with a total prevalence of approximately 6-8%. The clinical presentation of these disorders includes a broad diversity of symptoms and signs, often involving the nervous system and resulting in symptoms such as intellectual disability, neuropsychiatric disorders, epilepsy and motor dysfunction...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#14
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28985496/domino-using-machine-learning-to-predict-genes-associated-with-dominant-disorders
#15
Mathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti-Furga, Carlo Rivolta
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background noise (typically, in a 400:1 excess ratio). To reduce this overflow of false positives in next-generation sequencing (NGS) screens, we developed DOMINO, a tool assessing the likelihood for a gene to harbor dominant changes. Unlike commonly-used predictors of pathogenicity, DOMINO takes into consideration features that are the properties of genes, rather than of variants...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28982809/understanding-the-health-economic-burden-of-patients-with-tuberous-sclerosis-complex-tsc-with-epilepsy-a-retrospective-cohort-study-in-the-uk-clinical-practice-research-datalink-cprd
#16
Charles Shepherd, Matthias Koepp, Melissa Myland, Keyur Patel, Cristiana Miglio, Vathani Siva, Elizabeth Gray, Maureen Neary
INTRODUCTION: Epilepsy is highly prevalent in tuberous sclerosis complex (TSC), a multi-system genetic disorder. The clinical and economic burden of this condition is expected to be substantial due to treatment challenges, debilitating co-morbidities and the relationship between TSC-related manifestations. This study estimated healthcare resource utilisation (HCRU) and costs for patients with TSC with epilepsy (TSC+E) in the UK. METHODS: Patients with TSC+E in the Clinical Practice Research Datalink (CPRD) linked to Hospital Episodes Statistics were identified from April 1997 to March 2012...
October 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28931509/development-and-validation-of-qmortality-risk-prediction-algorithm-to-estimate-short-term-risk-of-death-and-assess-frailty-cohort-study
#17
Julia Hippisley-Cox, Carol Coupland
Objectives To derive and validate a risk prediction equation to estimate the short term risk of death, and to develop a classification method for frailty based on risk of death and risk of unplanned hospital admission.Design Prospective open cohort study.Participants Routinely collected data from 1436 general practices contributing data to QResearch in England between 2012 and 2016. 1079 practices were used to develop the scores and a separate set of 357 practices to validate the scores. 1.47 million patients aged 65-100 years were in the derivation cohort and 0...
September 20, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28870986/factors-affecting-seizure-outcome-after-epilepsy-surgery-an-observational-series
#18
Gail S Bell, Jane de Tisi, Juan Carlos Gonzalez-Fraile, Janet L Peacock, Andrew W McEvoy, William F J Harkness, Jacqueline Foong, Rebecca A Pope, Beate Diehl, Josemir W Sander, John S Duncan
IMPORTANCE: Surgical treatment can bring seizure remission in people with focal epilepsy but requires careful selection of candidates. OBJECTIVES: To determine which preoperative factors are associated with postoperative seizure outcome. DESIGN: We audited seizure outcome of 693 adults who had resective epilepsy surgery between 1990 and 2010 and used survival analysis to detect preoperatively identifiable risk factors of poor seizure outcome...
November 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28791958/the-%C3%AE-7-nach-nicotinic-receptor-and-its-role-in-memory-and-selected-diseases-of-the-central-nervous-system
#19
REVIEW
Urszula Baranowska, Róża Julia Wiśniewska
α7-nACh is one of the major nicotinic cholinergic receptor subtypes found in the brain. It is broadly expressed in the hippocampal and cortical neurons, the regions which play a key role in memory formation. Although α7-nACh receptors may serve as postsynaptic receptors mediating classical neurotransmission, they usually function as presynaptic modulators responsible for the release of other neurotransmitters, such as glutamate, γ-aminobutyric acid, dopamine, and norepinephrine. They can, therefore, affect a wide array of neurobiological functions...
July 30, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28753498/the-impact-of-epilepsy-on-academic-achievement-in-children-with-normal-intelligence-and-without-major-comorbidities-a-systematic-review
#20
REVIEW
S W Wo, L C Ong, W Y Low, P S M Lai
PURPOSE: To systematically examine published literature which assessed the prevalence of academic difficulties in children with epilepsy (CWE) of normal intelligence, and its associating factors. METHODS: A search was conducted on five databases for articles published in English from 1980 till March 2015. Included were studies who recruited children (aged 5-18 years), with a diagnosis or newly/recurrent epilepsy, an intelligent quotient (IQ) of ≥70 or attending regular school, with or without a control group, which measured academic achievement using a standardised objective measure, and published in English...
July 20, 2017: Epilepsy Research
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