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https://www.readbyqxmd.com/read/29036014/a-family-with-two-cases-of-melanocytic-tumors-and-fragile-x-syndrome
#1
Candice Lesage, Isabelle Coupier, Bernard Guillot
Fragile X syndrome (FXS), a leading cause of inherited intellectual disability, most commonly results from an expansion of the CGG trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene to more than 200 copies (full mutation). The FXS phenotype differs by sex and is associated with intellectual and cognitive impairment, characteristic physical features, epilepsy, and/or behavioral challenges including autism spectrum disorder. In this patient population, tumors involving blood cells, digestive organs, the central nervous system, and testes have been described, but melanocytic tumors have not been reported...
October 13, 2017: Melanoma Research
https://www.readbyqxmd.com/read/29028946/mouse-cntnap2-and-human-cntnap2-asd-alleles-cell-autonomously-regulate-pv-cortical-interneurons
#2
Daniel Vogt, Kathleen K A Cho, Samantha M Shelton, Anirban Paul, Z Josh Huang, Vikaas S Sohal, John L R Rubenstein
Human mutations in CNTNAP2 are associated with an array of neuropsychiatric and neurological syndromes, including speech and language disorders, epilepsy, and autism spectrum disorder (ASD). We examined Cntnap2's expression and function in GABAergic cortical interneurons (CINs), where its RNA is present at highest levels in chandelier neurons, PV+ neurons and VIP+ neurons. In vivo functions were studied using both constitutive Cntnap2 null mice and a transplantation assay, the latter to assess cell autonomous phenotypes of medial ganglionic eminence (MGE)-derived CINs...
September 28, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/29026562/developmental-progression-of-intellectual-disability-autism-and-epilepsy-in-a-child-with-an-iqsec2-gene-mutation
#3
Rachelle Zipper, Sherri D Baine, Jacob Genizi, Hen Maoz, Nina S Levy, Andrew P Levy
The neurodevelopmental progression of a school-aged child with a spontaneous IQSEC2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.
October 2017: Clinical Case Reports
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
#4
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/28993732/purinergic-signalling-therapeutic-developments
#5
REVIEW
Geoffrey Burnstock
Purinergic signalling, i.e., the role of nucleotides as extracellular signalling molecules, was proposed in 1972. However, this concept was not well accepted until the early 1990's when receptor subtypes for purines and pyrimidines were cloned and characterised, which includes four subtypes of the P1 (adenosine) receptor, seven subtypes of P2X ion channel receptors and 8 subtypes of the P2Y G protein-coupled receptor. Early studies were largely concerned with the physiology, pharmacology and biochemistry of purinergic signalling...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28993242/a-distinct-microrna-expression-profile-is-associated-with-%C3%AE-11-c-methyl-l-tryptophan-amt-pet-uptake-in-epileptogenic-cortical-tubers-resected-from-patients-with-tuberous-sclerosis-complex
#6
Shruti Bagla, Daniela Cukovic, Eishi Asano, Sandeep Sood, Aimee Luat, Harry T Chugani, Diane C Chugani, Alan A Dombkowski
Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. TSC mutations lead to a range of neurological manifestations including epilepsy, cognitive impairment, autism spectrum disorders (ASD), and brain lesions that include cortical tubers. There is evidence that seizures arise at or near cortical tubers, but it is unknown why some tubers are epileptogenic while others are not. We have previously reported increased tryptophan metabolism measured with α[(11)C]-methyl-l-tryptophan (AMT) positron emission tomography (PET) in epileptogenic tubers in approximately two-thirds of patients with tuberous sclerosis and intractable epilepsy...
October 7, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28982961/mechanisms-in-endocrinology-maternal-thyroid-dysfunction-during-pregnancy-and-behavioural-and-psychiatric-disorders-of-children-a-systematic-review
#7
REVIEW
Dagnachew Muluye Fetene, Kim S Betts, Rosa Alati
BACKGROUND: Maternal thyroid dysfunction during pregnancy may lead to persistent neurodevelopmental disorders in the offspring appearing in later life. This study aimed to review the available evidence concerning the relationship between maternal thyroid status during pregnancy and offspring behavioural and psychiatric disorders. METHODS: Systematic electronic database searches were conducted using PubMed, Embase, PsycNET, Scopus, Google Scholar and Cochrane library...
November 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28973667/a-novel-syn1-missense-mutation-in-non-syndromic-x-linked-intellectual-disability-affects-synaptic-vesicle-life-cycle-clustering-and-mobility
#8
Fabrizia C Guarnieri, Davide Pozzi, Andrea Raimondi, Riccardo Fesce, Maria M Valente, Vincenza S Delvecchio, Hilde Van Esch, Michela Matteoli, Fabio Benfenati, Patrizia D'Adamo, Flavia Valtorta
Intellectual Disability is a common and heterogeneous disorder characterized by limitations in intellectual functioning and adaptive behaviour, whose molecular mechanisms remain largely unknown. Among the numerous genes found to be involved in the pathogenesis of intellectual disability, 10% are located on the X-chromosome. We identified a missense mutation (c.236C>G; p.S79W) in the SYN1 gene coding for synapsin I in the MRX50 family, affected by non-syndromic X-linked intellectual disability. Synapsin I is a neuronal phosphoprotein involved in the regulation of neurotransmitter release and neuronal development...
September 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971012/neuromagnetic-responses-to-tactile-stimulation-of-the-fingers-evidence-for-reduced-cortical-inhibition-for-children-with-autism-spectrum-disorder-and-children-with-epilepsy
#9
William Gaetz, Michael T Jurkiewicz, Sudha Kilaru Kessler, Lisa Blaskey, Erin S Schwartz, Timothy P L Roberts
The purpose of this study was to compare somatosensory responses from a group of children with epilepsy and a group of children with autism spectrum disorder (ASD), with age matched TD controls. We hypothesized that the magnitude of the tactile "P50m" somatosensory response would be reduced in both patient groups, possibly due to reduced GABAergic signaling as has been implicated in a variety of previous animal models and in vivo human MRS studies. We observed significant (~ 25%) decreases in tactile P50m dipole moment values from the source localized tactile P50m response, both for children with epilepsy and for children with ASD...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28963809/psychiatric-comorbidities-and-use-of-psychotropic-medications-in-people-with-autism-spectrum-disorder-in-the-united-states
#10
Richard Houghton, Rose C Ong, Federico Bolognani
This study investigated psychotropic medication usage in two large, cohorts of people with autism spectrum disorder (ASD) throughout the calendar year 2014. The cohorts referred to individuals with commercial (employer-sponsored) and Medicaid insurance in the United States. We aimed to understand prescribing patterns of such medications across a wide age-range and in the presence/absence of other clinical and non-clinical characteristics, including psychiatric comorbidities. We described the prevalence and length of prescriptions by age, psychiatric comorbidity and overall...
September 30, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28958749/-comparative-genomic-hybridisation-as-a-first-option-in-genetic-diagnosis-1-000-cases-and-a-cost-benefit-analysis
#11
Neus Castells-Sarret, Anna M Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
BACKGROUND AND OBJECTIVE: Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders...
September 25, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28946588/changing-the-culture-of-neurodisability-through-language-and-sensitivity-of-providers-creating-a-safe-place-for-lgbtqia-people
#12
Alexander Moreno, Ari Laoch, Nathan D Zasler
BACKGROUND: There is an increasing interest in sexual and gender diversity in neurorehabilitation. Healthcare professionals wanting to improve their practice know the importance of understanding the needs and expectations of specific communities. OBJECTIVE: To critically review the literature about neurological disorders in people who identify as lesbian, gay, bisexual, transgender, queer, intersex, asexual, and people with other sexual orientations and forms of gender expression (LGBTQIA+)...
September 16, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28934990/x-linked-ichthyosis-associated-with-psychosis-and-behavioral-abnormalities-a-case-report
#13
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid
BACKGROUND: X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). CASE PRESENTATION: We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy...
September 22, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28931944/errant-gardeners-glial-cell-dependent-synaptic-pruning-and-neurodevelopmental-disorders
#14
REVIEW
Urte Neniskyte, Cornelius T Gross
The final stage of brain development is associated with the generation and maturation of neuronal synapses. However, the same period is also associated with a peak in synapse elimination - a process known as synaptic pruning - that has been proposed to be crucial for the maturation of remaining synaptic connections. Recent studies have pointed to a key role for glial cells in synaptic pruning in various parts of the nervous system and have identified a set of critical signalling pathways between glia and neurons...
September 21, 2017: Nature Reviews. Neuroscience
https://www.readbyqxmd.com/read/28922833/the-knockout-of-synapsin-ii-in-mice-impairs-social-behavior-and-functional-connectivity-generating-an-asd-like-phenotype
#15
Caterina Michetti, Angela Caruso, Marco Pagani, Mara Sabbioni, Lucian Medrihan, Gergely David, Alberto Galbusera, Monica Morini, Alessandro Gozzi, Fabio Benfenati, Maria Luisa Scattoni
Autism spectrum disorders (ASD) and epilepsy are neurodevelopmental conditions that appear with high rate of co-occurrence, suggesting the possibility of a common genetic basis. Mutations in Synapsin (SYN) genes, particularly SYN1 and SYN2, have been recently associated with ASD and epilepsy in humans. Accordingly, mice lacking Syn1 or Syn2, but not Syn3, experience epileptic seizures and display autistic-like traits that precede the onset of seizures. Here, we analyzed social behavior and ultrasonic vocalizations emitted in 2 social contexts by SynI, SynII, or SynIII mutants and show that SynII mutants display the most severe ASD-like phenotype...
October 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#16
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 14, 2017: Human Genetics
https://www.readbyqxmd.com/read/28888970/glial-overexpression-of-dube3a-causes-seizures-and-synaptic-impairments-in-drosophila-concomitant-with-down-regulation-of-the-na-k-pump-atp%C3%AE
#17
Kevin A Hope, Mark S LeDoux, Lawrence T Reiter
Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. We show that Drosophila endogenously expresses Dube3a (fly UBE3A homolog) in glial cells and neurons, prompting an investigation into the consequences of glial Dube3a overexpression. Here we expand on previous work showing that the Na(+)/K(+) pump ATPα is a direct ubiquitin ligase substrate of Dube3a...
September 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28859332/biology-of-microglia-in-the-developing-brain
#18
Charanjit Kaur, Gurugirijha Rathnasamy, Eng-Ang Ling
Microglia exist in different morphological forms in the developing brain. They show a small cell body with scanty cytoplasm with many branching processes in the grey matter of the developing brain. However, in the white matter such as the corpus callosum where the unmyelinated axons are loosely organized, they appear in an amoeboid form having a round cell body endowed with copious cytoplasm rich in organelles. The amoeboid cells eventually transform into ramified microglia in the second postnatal week when the tissue becomes more compact with the onset of myelination...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28855130/pten-deletion-increases-hippocampal-granule-cell-excitability-in-male-and-female-mice
#19
Victor R Santos, Raymund Y K Pun, Salwa R Arafa, Candi L LaSarge, Shane Rowley, Shadi Khademi, Tom Bouley, Katherine D Holland, Norberto Garcia-Cairasco, Steve C Danzer
Deletion of the mTOR pathway inhibitor PTEN from postnatally-generated hippocampal dentate granule cells causes epilepsy. Here, we conducted field potential, whole cell recording and single cell morphology studies to begin to elucidate the mechanisms by which granule cell-specific PTEN-loss produces disease. Cells from both male and female mice were recorded to identify sex-specific effects. PTEN knockout granule cells showed altered intrinsic excitability, evident as a tendency to fire in bursts. PTEN knockout granule cells also exhibited increased frequency of spontaneous excitatory synaptic currents (sEPSCs) and decreased frequency of inhibitory currents (sIPSCs), further indicative of a shift towards hyperexcitability...
September 20, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#20
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
August 28, 2017: JAMA Neurology
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