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https://www.readbyqxmd.com/read/28463240/incorrect-dosage-of-iqsec2-a-known-intellectual-disability-and-epilepsy-gene-disrupts-dendritic-spine-morphogenesis
#1
S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, C Shoubridge
There is considerable genetic and phenotypic heterogeneity associated with intellectual disability (ID), specific learning disabilities, attention-deficit hyperactivity disorder, autism and epilepsy. The intelligence quotient (IQ) motif and SEC7 domain containing protein 2 gene (IQSEC2) is located on the X-chromosome and harbors mutations that contribute to non-syndromic ID with and without early-onset seizure phenotypes in both sexes. Although IQ and Sec7 domain mutations lead to partial loss of IQSEC2 enzymatic activity, the in vivo pathogenesis resulting from these mutations is not known...
May 2, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28407523/glut1-deficiency-syndrome-report-of-a-four-generation-norwegian-family-with-a-mild-phenotype
#2
Anette Ramm-Pettersen, Karl O Nakken, Kathrine C Haavardsholm, Kaja Kristine Selmer
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. METHOD: Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28394231/long-term-neurodevelopmental-outcome-of-children-born-to-prospectively-followed-pregnancies-of-women-with-systemic-lupus-erythematosus-and-or-antiphospholipid-syndrome
#3
C Nalli, A Iodice, L Andreoli, J Galli, A Lojacono, M Motta, E Fazzi, A Tincani
Background Systemic lupus erythematosus (SLE) and antiphospholipid antibody syndrome (APS) are autoimmune diseases that affect women of childbearing age. Maternal IgG antiphospholipid antibodies (aPL) can cross the placenta during pregnancy and theoretically reach the fetal brain. Some studies showed an increased number of learning disabilities in these children. Objectives To evaluate the long-term neurodevelopmental outcome of 40 children (median age 7.4 years) born to mothers with SLE and/or APS carrying positive IgG aPL during the third trimester of pregnancy...
April 2017: Lupus
https://www.readbyqxmd.com/read/28336156/pediatric-arterial-ischemic-stroke-epidemiology-risk-factors-and-management
#4
Ryan J Felling, Lisa R Sun, Emily C Maxwell, Neil Goldenberg, Timothy Bernard
Pediatric arterial ischemic stroke (AIS) is an uncommon but important cause of neurologic morbidity in neonates and children, with consequences including hemiparesis, intellectual disabilities, and epilepsy. The causes of pediatric AIS are unique to those typically associated with stroke in adults. Familiarity with the risk factors for AIS in children will help with efficient diagnosis, which is unfortunately frequently delayed. Here we review the epidemiology and risk factors for AIS in neonates and children...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#5
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#6
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28186943/wordless-intervention-for-people-with-epilepsy-and-learning-disabilities-wield-a-randomised-controlled-feasibility-trial
#7
Silvana E Mengoni, Bob Gates, Georgina Parkes, David Wellsted, Garry Barton, Howard Ring, Mary Ellen Khoo, Deela Monji-Patel, Karin Friedli, Asif Zia, Lisa Irvine, Marie-Anne Durand
OBJECTIVE: To investigate the feasibility of a full-scale randomised controlled trial of a picture booklet to improve quality of life for people with epilepsy and learning disabilities. TRIAL DESIGN: A randomised controlled feasibility trial. Randomisation was not blinded and was conducted using a centralised secure database and a blocked 1:1 allocation ratio. SETTING: Epilepsy clinics in 1 English National Health Service (NHS) Trust. PARTICIPANTS: Patients with learning disabilities and epilepsy who had: a seizure within the past 12 months, meaningful communication and a carer with sufficient proficiency in English...
November 10, 2016: BMJ Open
https://www.readbyqxmd.com/read/28045139/chrna7-deficient-mice-manifest-no-consistent-neuropsychiatric-and-behavioral-phenotypes
#8
Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P Schaaf
The alpha7 nicotinic acetylcholine receptor, encoded by the CHRNA7 gene, has been implicated in various psychiatric and behavioral disorders, including schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, and is considered a potential target for therapeutic intervention. 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on chromosome 15q. CHRNA7 is the only gene in this locus that has been deleted entirely in cases involving the smallest microdeletions...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27935023/causes-of-mortality-in-individuals-with-tuberous-sclerosis-complex
#9
Sam Amin, Andrew Lux, Nuala Calder, Matthew Laugharne, John Osborne, Finbar O'callaghan
AIM: The causes of death in patients with tuberous sclerosis complex (TSC) have rarely been studied, with only one published account, which was reported from the Mayo Clinic in 1991. We aimed to investigate mortality in a large cohort of patients with TSC from one of two national referral clinics in the UK. METHOD: We identified 284 patients who attended Bath TSC clinic between 1981 and 2015, and ascertained causes of death by reviewing medical records, death certificates, and postmortem reports...
June 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#10
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27818011/human-grin2b-variants-in-neurodevelopmental-disorders
#11
REVIEW
Chun Hu, Wenjuan Chen, Scott J Myers, Hongjie Yuan, Stephen F Traynelis
The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR) gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental delay, epilepsy, and schizophrenia...
October 2016: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/27796422/type-1-diabetes-mellitus-and-risk-of-incident-epilepsy-a-population-based-open-cohort-study
#12
George E Dafoulas, Konstantinos A Toulis, Dougall Mccorry, Balachadran Kumarendran, G Neil Thomas, Brian H Willis, Krishna Gokhale, George Gkoutos, Parth Narendran, Krishnarajah Nirantharakumar
AIMS/HYPOTHESIS: The aim of this research was to explore the relationship between incident epilepsy and type 1 diabetes in British participants. METHODS: Using The Health Improvement Network database, we conducted a retrospective, open-cohort study. Patients who were newly diagnosed with type 1 diabetes mellitus at the age of ≤40 years were identified and followed-up from 1 January 1990 to 15 September 2015. These patients, identified as not suffering from epilepsy at the time of diagnosis, were randomly matched with up to four individuals without type 1 diabetes mellitus, based on age, sex and participating general practice...
February 2017: Diabetologia
https://www.readbyqxmd.com/read/27686651/value-of-video-monitoring-for-nocturnal-seizure-detection-in-a-residential-setting
#13
Marije van der Lende, Fieke M E Cox, Gerhard H Visser, Josemir W Sander, Roland D Thijs
OBJECTIVE: Following a sudden death at a residential care unit, the Dutch Health and Care Inspectorate advised intensification of the use of video monitoring (VM) at the unit. We assessed whether VM resulted in increased identification of seizures that required clinical intervention. METHODS: The unit provides care for 340 individuals with refractory epilepsy and severe learning disabilities. Acoustic detection systems (ADSs) cover all individuals; 37 people also have a bed motion sensor (BMS) and 46 people with possible nocturnal seizures are now monitored by VM...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27668670/health-status-among-adults-born-with-an-oral-cleft-in-norway
#14
Erik Berg, Øystein A Haaland, Kristin B Feragen, Charles Filip, Hallvard A Vindenes, Dag Moster, Rolv T Lie, Åse Sivertsen
Importance: Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. Objective: To assess whether oral clefts affect the health and ability to work of young adults. Design, Setting, and Participants: A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860)...
November 1, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27515243/argininosuccinic-acid-lyase-deficiency-missed-by-newborn-screen
#15
Rebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, Can Ficicioglu
Argininosuccinic acid lyase (ASL) deficiency, caused by mutations in the ASL gene (OMIM: 608310) is a urea cycle disorder that has pleiotropic presentations. On the mild end, ASL deficiency can manifest as nonspecific neurocognitive abnormalities without readily identifiable signs to differentiate it from other causes of intellectual disability or learning disabilities. Dietary management and arginine supplementation, if initiated early, may ameliorate symptoms.Because of the nonspecific nature of the symptoms and the possibility for therapeutic management, ASL deficiency is part of the recommended uniform screening panel for newborn screening in the USA...
August 12, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27490905/diagnostic-accuracy-of-audio-based-seizure-detection-in-patients-with-severe-epilepsy-and-an-intellectual-disability
#16
Johan B Arends, Jasper van Dorp, Dennis van Hoek, Niels Kramer, Petra van Mierlo, Derek van der Vorst, Francis I Y Tan
UNLABELLED: We evaluated the performance of audio-based detection of major seizures (tonic-clonic and long generalized tonic) in adult patients with intellectual disability living in an institute for residential care. METHODS: First, we checked in a random sample (n=17, 102 major seizures) how many patients have recognizable sounds during these seizures. In the second part of this trial, we followed 10 patients (who had major seizures with recognizable sounds) during four weeks with an acoustic monitoring system developed by CLB ('CLB-monitor') and video camera...
September 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27409573/17q12-deletion-and-duplication-syndrome-in-denmark-a-clinical-cohort-of-38-patients-and-review-of-the-literature
#17
Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibaek, Dea Svaneby, Olav Bjørn Petersen, Charlotte Brasch-Andersen, Lone Sunde
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling...
November 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27393930/adjunctive-perampanel-in-refractory-epilepsy-experience-at-tertiary-epilepsy-care-center-in-tours
#18
Aude Maurousset, Nadège Limousin, Julien Praline, Julien Biberon, Philippe Corcia, Bertrand De Toffol
PURPOSE: The purpose of this study was to evaluate the effectiveness and safety of PER as add-on treatment in patients with severe refractory epilepsy with a particular focus on patients with learning disability and/or psychiatric comorbidity. METHOD: We pooled retrospective data from adult patients with refractory epilepsy prescribed perampanel from a tertiary center in France between 1st May 2014 and 3rd June 2015. Data collection was done on February 2016. RESULTS: One hundred and one patients were included (mean age: 41...
August 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27303609/neurofeedback-a-comprehensive-review-on-system-design-methodology-and-clinical-applications
#19
Hengameh Marzbani, Hamid Reza Marateb, Marjan Mansourian
Neurofeedback is a kind of biofeedback, which teaches self-control of brain functions to subjects by measuring brain waves and providing a feedback signal. Neurofeedback usually provides the audio and or video feedback. Positive or negative feedback is produced for desirable or undesirable brain activities, respectively. In this review, we provided clinical and technical information about the following issues: (1) Various neurofeedback treatment protocols i.e. alpha, beta, alpha/theta, delta, gamma, and theta; (2) Different EEG electrode placements i...
April 2016: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/27256868/a-new-family-with-an-slc9a6-mutation-expanding-the-phenotypic-spectrum-of-christianson-syndrome
#20
Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, Claire Redin, Christel Thauvin-Robinet, Yvan Henrenger, Delphine Minot, Audrey Creppy, Marie Ruffier-Bourdet, Julien Thevenon, Paul Kuentz, Daphné Lehalle, Aurore Curie, Gaelle Blanchard, Ezzat Ghosn, Marlene Bonnet, Mélanie Archimbaud-Devilliers, Frédéric Huet, Odile Perret, Nicole Philip, Jean-Louis Mandel, Laurence Faivre
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression...
August 2016: American Journal of Medical Genetics. Part A
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