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https://www.readbyqxmd.com/read/29217145/neurodevelopmental-synaptopathies-insights-from-behaviour-in-rodent-models-of-synapse-gene-mutations
#1
REVIEW
J Luo, R H Norris, S L Gordon, J Nithianantharajah
The genomic revolution has begun to unveil the enormous complexity and heterogeneity of the genetic basis of neurodevelopmental disorders such as such epilepsy, intellectual disability, autism spectrum disorder and schizophrenia. Increasingly, human mutations in synapse genes are being identified across these disorders. These neurodevelopmental synaptopathies highlight synaptic homeostasis pathways as a convergence point underlying disease mechanisms. Here, we review some of the key pre- and postsynaptic genes in which penetrant human mutations have been identified in neurodevelopmental disorders for which genetic rodent models have been generated...
December 4, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29206810/mglur5-modulation-of-behavioral-and-epileptic-phenotypes-in-a-mouse-model-of-tuberous-sclerosis-complex
#2
Elyza Kelly, Samantha M Schaeffer, Sameer C Dhamne, Jonathan O Lipton, Lothar Lindemann, Michael Honer, Georg Jaeschke, Chloe E Super, Stephen Ht Lammers, Meera E Modi, Jill L Silverman, John R Dreier, David J Kwiatkowski, Alexander Rotenberg, Mustafa Sahin
Drugs targeting metabotropic glutamate receptor 5 (mGluR5) have therapeutic potential in autism spectrum disorders (ASD), including Tuberous Sclerosis Complex (TSC). The question whether inhibition or potentiation of mGluR5 could be beneficial depends, among other factors, on the specific indication. To facilitate the development of mGluR5 treatment strategies, we tested the therapeutic utility of mGluR5 negative and positive allosteric modulators (an mGluR5 NAM and PAM) for TSC, using a mutant mouse model with neuronal loss of Tsc2 that demonstrates disease-related phenotypes including behavioral symptoms of ASD and epilepsy...
December 5, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29203851/dynamic-landscape-of-the-local-translation-at-activated-synapses
#3
T M Khlebodarova, V V Kogai, E A Trifonova, V A Likhoshvai
The mammalian target of rapamycin (mTOR) signaling pathway is the central regulator of cap-dependent translation at the synapse. Disturbances in mTOR pathway have been associated with several neurological diseases, such as autism and epilepsy. RNA-binding protein FMRP, a negative regulator of translation initiation, is one of the key components of the local translation system. Activation and inactivation of FMRP occurs via phosphorylation by S6 kinase and dephosphorylation by PP2A phosphatase, respectively...
December 5, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29203264/identification-of-genes-regulating-gabaergic-interneuron-maturation
#4
Keita Fukumoto, Kota Tamada, Tsuyoshi Toya, Tasuku Nishino, Yuchio Yanagawa, Toru Takumi
During embryonic development, GABAergic interneurons, a main inhibitory component in the cerebral cortex, migrate tangentially from the ganglionic eminence (GE) to cerebral cortex. After reaching the cerebral cortex, they start to extend their neurites for constructing local neuronal circuits around the neonatal stage. Aberrations in migration or neurite outgrowth are implicated in neurological and psychiatric disorders such as epilepsy, schizophrenia and autism. Previous studies revealed that in the early phase of cortical development the neural population migrates tangentially from the GE in the telencephalon and several genes have been characterized as regulators of migration and specification of GABAergic interneurons...
December 1, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29184062/molecular-architecture-of-potassium-chloride-co-transporter-kcc2
#5
Morgane Agez, Patrick Schultz, Igor Medina, David J Baker, Matthew P Burnham, Ross A Cardarelli, Leslie C Conway, Kelly Garnier, Stefan Geschwindner, Anders Gunnarsson, Eileen J McCall, Alexandre Frechard, Stéphane Audebert, Tarek Z Deeb, Stephen J Moss, Nicholas J Brandon, Qi Wang, Niek Dekker, Anass Jawhari
KCC2 is a neuron specific K+-Cl- co-transporter that controls neuronal chloride homeostasis, and is critically involved in many neurological diseases including brain trauma, epilepsies, autism and schizophrenia. Despite significant accumulating data on the biology and electrophysiological properties of KCC2, structure-function relationships remain poorly understood. Here we used calixarene detergent to solubilize and purify wild-type non-aggregated and homogenous KCC2. Specific binding of inhibitor compound VU0463271 was demonstrated using surface plasmon resonance (SPR)...
November 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#6
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29146047/maternal-immune-activation-delays-excitatory-to-inhibitory-gamma-aminobutyric-acid-switch-in-offspring
#7
Irene Corradini, Elisa Focchi, Marco Rasile, Raffaella Morini, Genni Desiato, Romana Tomasoni, Michela Lizier, Elsa Ghirardini, Riccardo Fesce, Diego Morone, Isabella Barajon, Flavia Antonucci, Davide Pozzi, Michela Matteoli
BACKGROUND: The association between maternal infection and neurodevelopmental defects in progeny is well established, although the biological mechanisms and the pathogenic trajectories involved have not been defined. METHODS: Pregnant dams were injected intraperitoneally at gestational day 9 with polyinosinic:polycytidylic acid. Neuronal development was assessed by means of electrophysiological, optical, and biochemical analyses. RESULTS: Prenatal exposure to polyinosinic:polycytidylic acid causes an imbalanced expression of the Na+-K+-2Cl- cotransporter 1 and the K+-Cl- cotransporter 2 (KCC2)...
November 14, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29133852/nitrosynapsin-therapy-for-a-mouse-mef2c-haploinsufficiency-model-of-human-autism
#8
Shichun Tu, Mohd Waseem Akhtar, Rosa Maria Escorihuela, Alejandro Amador-Arjona, Vivek Swarup, James Parker, Jeffrey D Zaremba, Timothy Holland, Neha Bansal, Daniel R Holohan, Kevin Lopez, Scott D Ryan, Shing Fai Chan, Li Yan, Xiaofei Zhang, Xiayu Huang, Abdullah Sultan, Scott R McKercher, Rajesh Ambasudhan, Huaxi Xu, Yuqiang Wang, Daniel H Geschwind, Amanda J Roberts, Alexey V Terskikh, Robert A Rissman, Eliezer Masliah, Stuart A Lipton, Nobuki Nakanishi
Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. However, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood. Here we report that Mef2c (+/-)(Mef2c-het) mice exhibit behavioral deficits resembling those of human patients. Gene expression analyses on brains from these mice show changes in genes associated with neurogenesis, synapse formation, and neuronal cell death...
November 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/29119560/prevalence-and-risk-factors-for-autism-spectrum-disorder-in-epilepsy-a-systematic-review-and-meta-analysis
#9
REVIEW
Lauren Strasser, Michelle Downes, Jane Kung, J Helen Cross, Michelle De Haan
AIM: To assess the prevalence and risk factors for autism spectrum disorder (ASD) in epilepsy, and to better understand the relationship and comorbidity between these disorders. METHOD: PsychINFO and PubMed were searched for articles published in the past 15 years that examined the prevalence of ASD in individuals with epilepsy. RESULTS: A total of 19 studies were found with a pooled ASD prevalence of 6.3% in epilepsy. When divided by type, the risks of ASD for general epilepsy, infantile spasms, focal seizures, and Dravet syndrome were 4...
November 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29109559/curriculum-in-psychiatry-and-neurology-for-pharmacy-programs
#10
Julie A Dopheide, Jolene R Bostwick, Lisa W Goldstone, Kelan Thomas, Ruth Nemire, Kelly N Gable, Marshall Cates, Joshua Caballero, Tawny Smith, Jacquelyn Bainbridge
Objective. To describe pharmacy curricula in psychiatry and neurology and to report on neuropsychiatric pharmacy specialists' views on optimal curriculum. Methods. Design and administer one electronic survey to accredited pharmacy programs asking them to report information on curricula in psychiatry and neurology for the 2014-2015 academic year. Design and administer a separate electronic survey to board certified pharmacists with an academic affiliation who are members of the College of Psychiatric and Neurologic Pharmacists (CPNP) asking about their teaching activities and their opinion on optimal curricula...
September 2017: American Journal of Pharmaceutical Education
https://www.readbyqxmd.com/read/29107450/epilepsy-as-a-network-disorder-1-what-can-we-learn-from-other-network-disorders-such-as-autistic-spectrum-disorder-and-mood-disorders
#11
REVIEW
Andres M Kanner, Helen Scharfman, Nathalie Jette, Evdokia Anagnostou, Christophe Bernard, Carol Camfield, Peter Camfield, Karen Legg, Ilan Dinstein, Peter Giacobe, Alon Friedman, Bernd Pohlmann-Eden
Epilepsy is a neurologic condition which often occurs with other neurologic and psychiatric disorders. The relation between epilepsy and these conditions is complex. Some population-based studies have identified a bidirectional relation, whereby not only patients with epilepsy are at increased risk of suffering from some of these neurologic and psychiatric disorders (migraine, stroke, dementia, autism, depression, anxiety disorders, Attention deficit hyperactivity disorder (ADHD), and psychosis), but also patients with these conditions are at increased risk of suffering from epilepsy...
October 26, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#12
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29097123/epilepsy-as-a-network-disorder-2-what-can-we-learn-from-other-network-disorders-such-as-dementia-and-schizophrenia-and-what-are-the-implications-for-translational-research
#13
REVIEW
Helen E Scharfman, Andres M Kanner, Alon Friedman, Ingmar Blümcke, Candice E Crocker, Fernando Cendes, Ramon Diaz-Arrastia, Hans Förstl, André A Fenton, Anthony A Grace, Jorge Palop, Jason Morrison, Astrid Nehlig, Asuri Prasad, Karen S Wilcox, Nathalie Jette, Bernd Pohlmann-Eden
There is common agreement that many disorders of the central nervous system are 'complex', that is, there are many potential factors that influence the development of the disease, underlying mechanisms, and successful treatment. Most of these disorders, unfortunately, have no cure at the present time, and therapeutic strategies often have debilitating side effects. Interestingly, some of the 'complexities' of one disorder are found in another, and the similarities are often network defects. It seems likely that more discussions of these commonalities could advance our understanding and, therefore, have clinical implications or translational impact...
October 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29066951/connexin43-and-pannexin-based-channels-in-neuroinflammation-and-cerebral-neuropathies
#14
REVIEW
Denis Sarrouilhe, Catherine Dejean, Marc Mesnil
Connexins (Cx) are largely represented in the central nervous system (CNS) with 11 Cx isoforms forming intercellular channels. Moreover, in the CNS, Cx43 can form hemichannels (HCs) at non-junctional membrane as does the related channel-forming Pannexin1 (Panx1) and Panx2. Opening of Panx1 channels and Cx43 HCs appears to be involved in inflammation and has been documented in various CNS pathologies. Over recent years, evidence has accumulated supporting a link between inflammation and cerebral neuropathies (migraine, Alzheimer's disease (AD), Parkinson's disease (PD), major depressive disorder, autism spectrum disorder (ASD), epilepsy, schizophrenia, bipolar disorder)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29062978/interneuronopathies-and-their-role-in-early-life-epilepsies-and-neurodevelopmental-disorders
#15
Anna-Maria Katsarou, Solomon L Moshé, Aristea S Galanopoulou
GABAergic interneurons control the neural circuitry and network activity in the brain. The advances in genetics have identified genes that control the development, maturation and integration of GABAergic interneurons and implicated them in the pathogenesis of epileptic encephalopathies or neurodevelopmental disorders. For example, mutations of the Aristaless-Related homeobox X-linked gene (ARX) may result in defective GABAergic interneuronal migration in infants with epileptic encephalopathies like West syndrome (WS), Ohtahara syndrome or X-linked lissencephaly with abnormal genitalia (XLAG)...
September 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29045836/arc-requires-psd95-for-assembly-into-postsynaptic-complexes-involved-with-neural-dysfunction-and-intelligence
#16
Esperanza Fernández, Mark O Collins, René A W Frank, Fei Zhu, Maksym V Kopanitsa, Jess Nithianantharajah, Sarah A Lemprière, David Fricker, Kathryn A Elsegood, Catherine L McLaughlin, Mike D R Croning, Colin Mclean, J Douglas Armstrong, W David Hill, Ian J Deary, Giulia Cencelli, Claudia Bagni, Menachem Fromer, Shaun M Purcell, Andrew J Pocklington, Jyoti S Choudhary, Noboru H Komiyama, Seth G N Grant
Arc is an activity-regulated neuronal protein, but little is known about its interactions, assembly into multiprotein complexes, and role in human disease and cognition. We applied an integrated proteomic and genetic strategy by targeting a tandem affinity purification (TAP) tag and Venus fluorescent protein into the endogenous Arc gene in mice. This allowed biochemical and proteomic characterization of native complexes in wild-type and knockout mice. We identified many Arc-interacting proteins, of which PSD95 was the most abundant...
October 17, 2017: Cell Reports
https://www.readbyqxmd.com/read/29036014/a-family-with-two-cases-of-melanocytic-tumors-and-fragile-x-syndrome
#17
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...
December 2017: Melanoma Research
https://www.readbyqxmd.com/read/29028946/mouse-cntnap2-and-human-cntnap2-asd-alleles-cell-autonomously-regulate-pv-cortical-interneurons
#18
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
#19
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
#20
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
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