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intellectual disability and epilepsy

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https://www.readbyqxmd.com/read/29341460/intellectual-disability-and-epilepsy-due-to-the-k-l-mediated-xq28-duplication-further-evidence-of-a-distinct-dosage-dependent-phenotype
#1
David Isum Ward, Bethany A Buckley, Eyby Leon, Jullianne Diaz, Margaret Faust Galegos, Sean Hofherr, Amy Feldman Lewanda
Copy number variants of the X-chromosome are a common cause of X-linked intellectual disability in males. Duplication of the Xq28 band has been known for over a decade to be the cause of the Lubs X-linked Mental Retardation Syndrome (OMIM 300620) in males and this duplication has been narrowed to a critical region containing only the genes MECP2 and IRAK1. In 2009, four families with a distal duplication of Xq28 not including MECP2 and mediated by low-copy repeats (LCRs) designated "K" and "L" were reported with intellectual disability and epilepsy...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#2
Paolo Curatolo, Romina Moavero, Jackelien van Scheppingen, Eleonora Aronica
The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies"...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29336297/add-on-perampanel-and-aggressive-behaviour-in-severe-drug-resistant-focal-epilepsies
#3
S Juhl, G Rubboli
This study aimed to investigate the incidence of aggressiveness in patients with severe drug-refractory focal epilepsy (DRE) who started perampanel (PER) as add-on treatment, and to identify possible predisposing factors. Data on 49 consecutive patients with severe DRE who initiated PER were retrospectively collected. Twelve of the 49 patients experienced aggressiveness as adverse event related to PER treatment, one third of them on low (2-4 mg/day) PER dosages. PER was discontinued in 10/12 patients because of aggressive behaviors...
October 2017: Functional Neurology
https://www.readbyqxmd.com/read/29322246/de-novo-variants-in-setd1b-are-associated-with-intellectual-disability-epilepsy-and-autism
#4
Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, Tokiko Fukuda, Mitsuhiro Kato, Hiroko Ikeda, Yoko Sugie, Kazushi Aoto, Tadashi Kaname, Kazuhiko Nakabayashi, Tsutomu Ogata, Naomichi Matsumoto, Hirotomo Saitsu
SETD1B (SET domain containing 1B) is a component of SET1 histone methyltransferase complex, which mediates the methylation of histone H3 on lysine 4 (H3K4). Here, we describe two unrelated individuals with de novo variants in SETD1B identified by trio-based whole exome sequencing: c.5524C>T, p.(Arg1842Trp) and c.5575C>T, p.(Arg1859Cy). The two missense variants occurred at evolutionarily conserved amino acids and are located within the SET domain, which plays a pivotal role in catalyzing histone methylation...
January 10, 2018: Human Genetics
https://www.readbyqxmd.com/read/29321361/a-novel-contiguous-deletion-involving-ndp-maob-and-efhc2-gene-in-a-patient-with-familial-norrie-disease-bilateral-blindness-and-leucocoria-without-other-deficits
#5
Bei Jia, Liping Huang, Yaoyu Chen, Siping Liu, Cuihua Chen, Ke Xiong, Lanlin Song, Yulai Zhou, Xinping Yang, Mei Zhong
Contiguous microdeletions of the Norrie disease pseudoglioma (NDP) region on chromosome Xp11.3 have been widely confirmed as contributing to the typical clinical features of Norrie disease (ND). However, the precise relation between genotype and phenotype could vary. The contiguous deletion of NDP and its neighbouring genes, MAOA/B and EFHC2, reportedly leads to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy. Herewe report a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes,which causes eye defects but no cognitive disability...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29317959/impact-of-oxidative-stress-and-newer-antiepileptic-drugs-on-the-albumin-and-cortisol-value-in-severe-motor-and-intellectual-disabilities-with-epilepsy
#6
Masahito Morimoto, Toshiaki Hashimoto, Taisuke Kitaoka, Shojiro Kyotani
Background: Epilepsy is a common complication in patients with severe motor and intellectual disabilities (SMID). There are no reports as yet of the effects of these medications in vivo other than their epileptic efficacy. The purpose of this study was to clarify the effects of the newer antiepileptic drugs (AEDs) on the blood biochemical parameters and oxidative stress in SMID with epilepsy by comparing the therapeutic effects between a group of patients receiving lamotrigine (LTG) and levetiracetam (LEV) in addition to the conventional AEDs (newer AED group) and a group receiving conventional AEDs alone (old AED group)...
February 2018: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29315614/defining-the-phenotypic-spectrum-of-slc6a1-mutations
#7
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, J Lawrence Merritt, Lance H Rodan, Wen-Hann Tan, Lynne M Bird, Mark Nespeca, Joseph G Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S Verhoeven, Helenius J Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E Shaw, Laura Pisani, Candace T Myers, Sha Tang, Shan Tang, Deb K Pal, John J Millichap, Gemma L Carvill, Kathrine L Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C Mefford, Rikke S Møller
OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature...
January 8, 2018: Epilepsia
https://www.readbyqxmd.com/read/29314463/prevalence-and-patterns-of-anti-epileptic-medication-prescribing-in-the-treatment-of-epilepsy-in-older-adults-with-intellectual-disabilities
#8
M O'Dwyer, J Peklar, N Mulryan, P McCallion, M McCarron, M C Henman
BACKGROUND: The prevalence of epilepsy is higher in people with intellectual disability (ID) and increases with the degree of ID. Although life expectancy for people with ID is increasing, people with ID coexisting with epilepsy have a higher mortality rate, particularly those who had recent seizures. There have been few observational studies of the prevalence and patterns of anti-epileptic prescribing among older people with ID and epilepsy. The aim of this study was to investigate prevalence and patterns of anti-epileptic prescribing in the treatment of epilepsy in a representative population of older people with ID and epilepsy...
January 5, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#9
REVIEW
Frank Mc Besag
Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29288080/onchocerciasis-associated-epilepsy-an-additional-reason-for-strengthening-onchocerciasis-elimination-programs
#10
REVIEW
Robert Colebunders, F J Nelson Siewe, An Hotterbeekx
A high prevalence of epilepsy has been observed in onchocerciasis-endemic regions with high onchocerciasis transmission. Recent epidemiological studies suggest that Onchocerca volvulus infection is the trigger causing the seizures, which appear in previously healthy children between the ages of 3 and 18 years. Persons with onchocerciasis-associated epilepsy present with a wide spectrum of seizures, including atonic and myoclonic neck seizures; but also absences and most frequently generalized tonic-clonic seizures...
December 26, 2017: Trends in Parasitology
https://www.readbyqxmd.com/read/29286390/a-novel-strategy-combining-array-cgh-whole-exome-sequencing-and-in-utero-electroporation-in-rodents-to-identify-causative-genes-for-brain-malformations
#11
Valerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, Richard J Leventer, Fabienne Schaller, Elena Parrini, Agathe A Deparis, Françoise Watrin, Emmanuelle Buhler, Francesca Novara, Stefano Lise, Alistair T Pagnamenta, Usha Kini, Jenny C Taylor, Orsetta Zuffardi, Alfonso Represa, David Antony Keays, Renzo Guerrini, Antonio Falace, Carlos Cardoso
Birth defects that involve the cerebral cortex - also known as malformations of cortical development (MCD) - are important causes of intellectual disability and account for 20-40% of drug-resistant epilepsy in childhood. High-resolution brain imaging has facilitated in vivo identification of a large group of MCD phenotypes. Despite the advances in brain imaging, genomic analysis and generation of animal models, a straightforward workflow to systematically prioritize candidate genes and to test functional effects of putative mutations is missing...
December 1, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29283439/homozygous-boricua-tbck-mutation-causes-neurodegeneration-and-aberrant-autophagy
#12
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W Yum, Peter B Crino, Miao He, Douglas C Wallace, Carsten G Bönnemann
OBJECTIVE: Autosomal recessive mutations in TBCK cause intellectual disability of variable severity. Although the physiologic function of TBCK remains unclear, loss-of-function mutations are associated with inhibition of mTORC1 signaling. As mTORC1 signaling is known to regulate autophagy, we hypothesized that TBCK-encephalopathy patients with a neurodegenerative course have defects in autophagic-lysosomal dysfunction. METHODS: Children (n=8) of Puerto Rican (Boricua) descent affected with homozygous TBCK p...
December 28, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29276004/missense-variants-in-rhobtb2-cause-a-developmental-and-epileptic-encephalopathy-in-humans-and-altered-levels-cause-neurological-defects-in-drosophila
#13
Jonas Straub, Enrico D H Konrad, Johanna Grüner, Annick Toutain, Levinus A Bok, Megan T Cho, Heather P Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan Krock, Mohamad A Mikati, Addie Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R Ortiz-Gonzalez, Zöe Powis, Avni Santani, Lacey Smith, Alexander P A Stegmann, Constance Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier
Although the role of typical Rho GTPases and other Rho-linked proteins in synaptic plasticity and cognitive function and dysfunction is widely acknowledged, the role of atypical Rho GTPases (such as RHOBTB2) in neurodevelopment has barely been characterized. We have now identified de novo missense variants clustering in the BTB-domain-encoding region of RHOBTB2 in ten individuals with a similar phenotype, including early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorders...
December 13, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29275387/syndrome-of-x-linked-intellectual-disability-epilepsy-progressive-brain-atrophy-and-large-head-associated-with-slc9a6-mutation
#14
Hansashree Padmanabha, Arushi Gahlot Saini, Jitendra Kumar Sahu, Pratibha Singhi
SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We describe a 3-year-old boy with intellectual disability, infantile-onset drug-refractory epilepsy, progressive brain atrophy and large head with a novel missense hemizygous mutation in exon 16 of the SLC9A6 gene on chromosome X. Presence of large head, early developmental regression and progressive cerebral atrophy expand the phenotypic spectrum of SLC9A6 mutations...
December 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29273094/b3galnt2-mutations-associated-with-non-syndromic-autosomal-recessive-intellectual-disability-reveal-a-lack-of-genotype-phenotype-associations-in-the-muscular-dystrophy-dystroglycanopathies
#15
Reza Maroofian, Moniek Riemersma, Lucas T Jae, Narges Zhianabed, Marjolein H Willemsen, Willemijn M Wissink-Lindhout, Michèl A Willemsen, Arjan P M de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J Lefeber, Hans van Bokhoven
BACKGROUND: The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement. However, muscular dystrophy is invariably found across the spectrum of MDDG patients. METHODS: Using linkage mapping and whole-exome sequencing in two families with an unexplained neurodevelopmental disorder, we have identified homozygous and compound heterozygous mutations in B3GALNT2...
December 22, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29260614/neuroimaging-findings-in-pallister-killian-syndrome
#16
Emil Jernstedt Barkovich, Tarannum Musvee Lateef, Matthew T Whitehead
Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. Comprehensive high-resolution brain MR findings of PKS in childhood have not been previously illustrated in the medical literature. We present detailed neuroimaging findings from a child with PKS and thoroughly review previously reported structural brain abnormalities in this patient population...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/29249509/what-is-the-relationship-between-autism-spectrum-disorders-and-epilepsy
#17
Roberto Tuchman
The association of epilepsy and autism spectrum disorders (ASD) is best understood by examining the relationship between social cognition, nonsocial cognition, and epilepsy. The relationship between ASD and epilepsy is bidirectional and is strongly linked to intellectual disability (ID). The risk of developing ASD in children with epilepsy is highest in children with early onset seizures, with a high prevalence in children with infantile spasms. The risk of developing epilepsy in children first diagnosed with ASD is highest in those with ID...
November 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29249504/cognitive-disabilities-and-long-term-outcomes-in-children-with-epilepsy-a-tangled-tail
#18
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/29248671/chromatin-in-nervous-system-development-and-disease
#19
EDITORIAL
Shigeki Iwase, Donna M Martin
Epigenetic regulation of gene expression is critical during development of the central nervous system. Pathogenic variants in genes encoding epigenetic factors have been found to cause a wide variety of neurodevelopmental disorders including Autism spectrum disorder, intellectual disability, and epilepsy. Cancers affecting neuronal and glial cells in the brain have also been shown to exhibit somatic mutations in epigenetic regulators, suggesting chromatin-based links between regulated and dysregulated cellular proliferation and differentiation...
December 14, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29246092/improvement-of-self-injury-with-dopamine-and-serotonin-replacement-therapy-in-a-patient-with-a-hemizygous-pak3-mutation-a-new-therapeutic-strategy-for-neuropsychiatric-features-of-an-intellectual-disability-syndrome
#20
Gabriella A Horvath, Maja Tarailo-Graovac, Tanja Bartel, Simone Race, Margot I Van Allen, Ingrid Blydt-Hansen, Colin J Ross, Wyeth W Wasserman, Mary B Connolly, Clara D M van Karnebeek
PAK3-related intellectual disability is caused by mutations in the gene encoding the p21-activated kinase (PAK) protein. It is characterized by mild to moderate cognitive impairment, micro/normocephaly, and a neurobehavioral phenotype characterized by short attention span, anxiety, restlessness, aggression, and self-abusive behaviors. The authors report a patient with a novel PAK3 mutation, who presented with intellectual disability, severe automutilation, and epilepsy. His magnetic resonance imaging changes were most likely secondary to lacerations from parenchymal contusions...
January 2018: Journal of Child Neurology
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