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Autism epilepsy

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https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#1
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/29402632/prospective-longitudinal-overnight-video-eeg-evaluation-in-phelan-mcdermid-syndrome
#2
Omar I Khan, Xiangping Zhou, Jill Leon, Riley Kessler, Thomas Gaughan, Precilla D'Souza, Andrea Gropman, Ninette Cohen, Owen Rennert, Ashura Buckley, Sara Inati, Audrey Thurm
OBJECTIVE: Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations, including deletions, in the chromosome 22q13 region. This PMS phenotype includes intellectual disability, often minimal to absent verbal skills, and other neurologic features including autism spectrum disorder and seizures. Reports indicate seizures and abnormal electroencephalograms (EEGs) in this population, but previous studies do not describe EEG findings during sleep or prognostic value of abnormal EEG over any time period...
February 2, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29398929/translating-genetic-and-preclinical-findings-into-autism-therapies
#3
Maria Chahrour, Robin J Kleiman, M Chiara Manzini
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by social deficits and repetitive/restrictive interests. ASD is associated with multiple comorbidities, including intellectual disability, anxiety, and epilepsy. Evidence that ASD is highly heritable has spurred major efforts to unravel its genetics, revealing possible contributions from hundreds of genes through rare and common variation and through copy-number changes. In this perspective, we provide an overview of the current state of ASD genetics and of how genetic research has spurred the development of in vivo and in vitro models using animals and patient cells to evaluate the impact of genetic mutations on cellular function leading to disease...
December 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29395074/otud7a-regulates-neurodevelopmental-phenotypes-in-the-15q13-3-microdeletion-syndrome
#4
Mohammed Uddin, Brianna K Unda, Vickie Kwan, Nicholas T Holzapfel, Sean H White, Leon Chalil, Marc Woodbury-Smith, Karen S Ho, Erin Harward, Nadeem Murtaza, Biren Dave, Giovanna Pellecchia, Lia D'Abate, Thomas Nalpathamkalam, Sylvia Lamoureux, John Wei, Marsha Speevak, James Stavropoulos, Kristin J Hope, Brad W Doble, Jacob Nielsen, E Robert Wassman, Stephen W Scherer, Karun K Singh
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, including autism spectrum disorder (ASD), epilepsy, schizophrenia, and intellectual disability; however, the mechanisms underlying the pathogenesis of 15q13.3 microdeletion syndrome remain unknown. We combined whole-genome sequencing, human brain gene expression (proteome and transcriptome), and a mouse model with a syntenic heterozygous deletion (Df(h15q13)/+ mice) and determined that the microdeletion results in abnormal development of cortical dendritic spines and dendrite outgrowth...
February 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29377098/pcdh19-related-epilepsy-is-associated-with-a-broad-neurodevelopmental-spectrum
#5
Lacey Smith, Nilika Singhal, Christelle M El Achkar, Gessica Truglio, Beth Rosen Sheidley, Joseph Sullivan, Annapurna Poduri
OBJECTIVE: To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." METHODS: We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports, population databases, and in silico predictions, and included individuals with pathogenic or potentially pathogenic variants...
January 28, 2018: Epilepsia
https://www.readbyqxmd.com/read/29340132/effect-of-epilepsy-on-autism-symptoms-in-angelman-syndrome
#6
Kristin A Bakke, Patricia Howlin, Lars Retterstøl, Øivind J Kanavin, Arvid Heiberg, Terje Nærland
Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate. Angelman syndrome (AS) is presented as a suitable disease model to explore this association. Methods: Data from medical records and questionnaires were used to examine the association between age of epilepsy onset, autism symptoms, genetic aberration and communication level...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29338461/mtor-dysregulation-and-tuberous-sclerosis-related-epilepsy
#7
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 27, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29332185/handedness-and-the-risk-of-glioma
#8
Briana Miller, Noah C Peeri, Louis Burt Nabors, Jordan H Creed, Zachary J Thompson, Carrie M Rozmeski, Renato V LaRocca, Sajeel Chowdhary, Jeffrey J Olson, Reid C Thompson, Kathleen M Egan
Gliomas are the most common type of malignant primary brain tumor and few risk factors have been linked to their development. Handedness has been associated with several pathologic neurological conditions such as schizophrenia, autism, and epilepsy, but few studies have evaluated a connection between handedness and risk of glioma. In this study, we examined the relationship between handedness and glioma risk in a large case-control study (1849 glioma cases and 1354 healthy controls) and a prospective cohort study (326,475 subjects with 375 incident gliomas)...
January 13, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29322246/de-novo-variants-in-setd1b-are-associated-with-intellectual-disability-epilepsy-and-autism
#9
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/29317612/gamma-oscillatory-activity-in-vitro-a-model-system-to-assess-pathophysiological-mechanisms-of-comorbidity-between-autism-and-epilepsy
#10
D Subramanian, E Pralong, R T Daniel, A G Chacko, R Stoop, K S Babu
Autism spectrum disorder (ASD) and temporal lobe epilepsy exhibit remarkable comorbidity, but for reasons not clearly understood. To reveal a common pathophysiological mechanism, we here describe and characterize an in vitro epileptiform activity in the rat hippocampus that exhibits common features with in vivo activity in rodent ASD models. We discovered the development of this activity in the CA1 region of horizontal slices after prolonged interictal-like epileptiform activity in the CA3 region that was provoked by incubation in high potassium artificial cerebrospinal fluid...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29310907/co-occurrence-and-severity-of-neurodevelopmental-burden-cognitive-impairment-cerebral-palsy-autism-spectrum-disorder-and-epilepsy-at-age-10-years-in-children-born-extremely-preterm
#11
Rachel G Hirschberger, Karl C K Kuban, Thomas M O'Shea, Robert M Joseph, Tim Heeren, Laurie Douglass, Carl E Stafstrom, Hernan Jara, Jean A Frazier, Deborah Hirtz, Julie Rollins, Nigel Paneth
BACKGROUND: This study aims to determine the prevalence of neurodevelopmental impairments at age ten years among children born extremely preterm (less than 28 weeks gestational age) and to offer a framework for categorizing neurological limitations. METHODS: A multicenter, prospective cohort follow-up study recruited 889 ten-year-old children born from 2002 to 2004. We assessed prevalence of cognitive impairment, measured by intelligent quotient and tests of executive function, cerebral palsy (CP), autism spectrum disorder (ASD), and epilepsy singly and in combination...
November 13, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29296085/epilepsy-in-patients-with-autism-links-risks-and-treatment-challenges
#12
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/29286389/differentiation-of-mouse-embryonic-stem-cells-into-cortical-interneuron-precursors
#13
David J Tischfield, Stewart A Anderson
GABAergic cortical interneurons are a heterogeneous population of cells that play critical roles in regulating the output of excitatory pyramidal neurons as well as synchronizing the outputs of pyramidal neuron ensembles. Deficits in interneuron function have been implicated in a variety of neuropsychiatric disorders, including schizophrenia, autism, and epilepsy. The derivation of cortical interneurons from embryonic stem cells not only allows for the study of their development and function, but provides insight into the molecular mechanisms underlying the pathogenesis of cortical interneuron-related disorders...
December 3, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29282644/a-case-of-nephrogenic-syndrome-of-inappropriate-antidiuresis-caused-by-carbamazepine
#14
Naoko Sekiya, Midori Awazu
We report a case of nephrogenic syndrome of inappropriate antidiuresis caused by carbamazepine (CBZ). CBZ, an antiepileptic drug, is known to cause hyponatremia. The mechanism is generally considered to be inappropriate secretion of antidiuretic hormone, whereas an experimental study suggests a direct effect of CBZ on the kidney by stimulating vasopressin receptor. An 18-year-old male with atypical autism and epilepsy has been treated with CBZ and clobazam since age 9 and 10 years, respectively. At age 11, he was found to have asymptomatic hyponatremia...
December 27, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29279889/association-of-folic-acid-supplementation-during-pregnancy-with-the-risk-of-autistic-traits-in-children-exposed-to-antiepileptic-drugs-in-utero
#15
Marte Bjørk, Bettina Riedel, Olav Spigset, Gyri Veiby, Eivind Kolstad, Anne Kjersti Daltveit, Nils Erik Gilhus
Importance: Strategies to prevent autism in children exposed to antiepileptic drugs (AEDs) during pregnancy are important. Objective: To explore whether folic acid supplementation and folate status in pregnancy are associated with reduced risk of autistic traits owing to in utero AED exposure. Design, Setting, and Participants: The population-based, prospective Norwegian Mother and Child Cohort Study approached Norwegian-speaking women attending routine ultrasonographic examinations from June 1999 through December 31, 2008 (163 844 of 277 702 women refused)...
December 26, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29277263/genetics-of-human-epilepsies-continuing-progress
#16
Pierre Szepetowski
Numerous epilepsy genes have been identified in the last years, mostly in the (rare) monogenic forms and thanks to the increased availability and the decreased cost of next-generation sequencing approaches. Besides the somehow expected group of epilepsy genes encoding various ion channel subunits (e.g. sodium or potassium channel subunits, or GABA receptors, or glutamate-gated NMDA receptors), more diversity has emerged recently, with novel epilepsy genes encoding proteins playing a wide range of physiological roles at the cellular and molecular levels, such as synaptic proteins, members of the mTOR pathway, or proteins involved in chromatin remodeling...
December 22, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29275387/syndrome-of-x-linked-intellectual-disability-epilepsy-progressive-brain-atrophy-and-large-head-associated-with-slc9a6-mutation
#17
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/29250725/angelman-syndrome-due-to-ube3a-gene-mutation
#18
Jyotindra Narayan Goswami, Jitendra Kumar Sahu, Pratibha Singhi
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis...
December 18, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29249509/what-is-the-relationship-between-autism-spectrum-disorders-and-epilepsy
#19
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/29248671/chromatin-in-nervous-system-development-and-disease
#20
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
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