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Autism epilepsy

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https://www.readbyqxmd.com/read/28721826/clinical-uses-of-melatonin-in-neurological-diseases-and-mental-and-behavioural-disorders
#1
Emilio J Sánchez-Barceló, Noemi R Revilla, María D Mediavilla, Carmen Martínez-Cué, Russel J Reiter
Melatonin is a molecule with numerous properties applicable to the treatment of neurological diseases. Among these properties are the following: potent scavenger of oxygen and nitrogen reactive species, anti-inflammatory features, immuno-enhancing nature, and modulation of circadian rhythmicity. Furthermore, low concentrations of melatonin are usually found in patients with neurological diseases and mental disorders. The positive results obtained in experimental models of diverse pathologies, including diseases of the nervous system (e...
July 18, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28713243/synaptic-interactome-mining-reveals-p140cap-as-a-new-hub-for-psd-proteins-involved-in-psychiatric-and-neurological-disorders
#2
Annalisa Alfieri, Oksana Sorokina, Annie Adrait, Costanza Angelini, Isabella Russo, Alessandro Morellato, Michela Matteoli, Elisabetta Menna, Elisabetta Boeri Erba, Colin McLean, J Douglas Armstrong, Ugo Ala, Joseph D Buxbaum, Alfredo Brusco, Yohann Couté, Silvia De Rubeis, Emilia Turco, Paola Defilippi
Altered synaptic function has been associated with neurological and psychiatric conditions including intellectual disability, schizophrenia and autism spectrum disorder (ASD). Amongst the recently discovered synaptic proteins is p140Cap, an adaptor that localizes at dendritic spines and regulates their maturation and physiology. We recently showed that p140Cap knockout mice have cognitive deficits, impaired long-term potentiation (LTP) and long-term depression (LTD), and immature, filopodia-like dendritic spines...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28690686/vagus-nerve-stimulation-as-a-potential-adjuvant-to-behavioral-therapy-for-autism-and-other-neurodevelopmental-disorders
#3
REVIEW
Crystal T Engineer, Seth A Hays, Michael P Kilgard
BACKGROUND: Many children with autism and other neurodevelopmental disorders undergo expensive, time-consuming behavioral interventions that often yield only modest improvements. The development of adjunctive interventions that can increase the benefit of rehabilitation therapies is essential in order to improve the lives of individuals with neurodevelopmental disorders. MAIN TEXT: Vagus nerve stimulation (VNS) is an FDA approved therapy that is safe and effective in reducing seizure frequency and duration in individuals with epilepsy...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28690234/-pcdh19-gene-mutations-lead-to-epilepsy-with-mental-retardation-limited-to-females-in-2-cases-and-literature-review
#4
Li Yang, Ahmed Arafat, Jing Peng, Chen Chen, Yuping Ma, Fei Yin
Epilepsy with mental retardation limited to females (EFMR) is a syndrome characterized by early onset heat-sensitive epilepsy of infancy or early childhood and generally limited to females, which previously reported that the cadherin gene superfamily subtype protocadherin 19 (PCDH19) gene is its pathogenic gene. We retrospectively analyzed the clinical data for 2 cases of EFMR patients with PCDH19 mutation diagnosed by Department of Pediatric Neurology of Xiangya Hospital, Central South University in 2015. Literature on PubMed, OMIM and HGMD relevant to this syndrome was reviewed, and the clinical characteristics were summarized accordingly...
June 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28675557/neurobehavioral-comorbidities-of-epilepsy-role-of-inflammation
#5
Andrey M Mazarati, Megan L Lewis, Quentin J Pittman
Epilepsy is associated with a high incidence of comorbid neurologic and psychiatric disorders. This review focuses on the association of epilepsy with autism spectrum disorder (ASD) and depression. There is high concordance of these behavioral pathologies with epilepsy. We review data that unambiguously reveal that epilepsy, ASD, and depression are associated with elevated brain inflammatory markers and that these may interact with serotoninergic pathways. Interference with inflammatory pathways or actions can reduce the severity of seizures, depression, and ASD-like behavior...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28663780/new-insights-into-the-pathogenesis-and-prevention-of-tuberous-sclerosis-associated-neuropsychiatric-disorders-tand
#6
REVIEW
Tanjala T Gipson, Michael V Johnston
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures...
2017: F1000Research
https://www.readbyqxmd.com/read/28649286/autism-spectrum-disorder-and-epileptic-encephalopathy-common-causes-many-questions
#7
REVIEW
Siddharth Srivastava, Mustafa Sahin
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28623167/the-ketogenic-diet-affects-the-social-behavior-of-young-male-rats
#8
Daniela Kasprowska-Liśkiewicz, Arkadiusz D Liśkiewicz, Marta M Nowacka-Chmielewska, Joanna Nowicka, Andrzej Małecki, Jarosław J Barski
The positive effects of the ketogenic diet (KD) on social behavior have been recently reported in patients and rodent models of autism spectrum disorder (ASD). Given the beneficial effects of the KD on epilepsy, mitochondrial function, carbohydrate metabolism, and inflammation, treatment based on the KD has the potential to reduce some of the ASD-associated symptoms, including abnormal social interactions. It is not known whether the KD influences sociability by reducing the pathological processes underlying ASD or through some independent mechanism...
June 13, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28607167/the-role-of-creb-srf-and-mef2-in-activity-dependent-neuronal-plasticity-in-the-visual-cortex
#9
Nisha S Pulimood, Rodrigues Wandilson Dos Santos, Devon A Atkinson, Sandra M Mooney, Alexandre E Medina
The transcription factors CREB (cAMP Response Element Binding factor), SRF (Serum Response Factor) and MEF2 (Myocyte Enhancer Factor 2) play critical roles in the mechanisms underlying neuronal plasticity. However, the role of the activation of these transcription factors in the different components of plasticity in vivo is not well known. In this study, we tested the role of CREB, SRF and MEF2 in ocular dominance plasticity (ODP), a paradigm of activity-dependent neuronal plasticity in the visual cortex. These three proteins bind to the Synaptic Activity Response Element (SARE), an enhancer sequence found upstream of many plasticity-related genes (Kawashima et al...
June 12, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28607094/pharmacology-of-the-nav1-1-domain-iv-voltage-sensor-reveals-coupling-between-inactivation-gating-processes
#10
Jeremiah D Osteen, Kevin Sampson, Vivek Iyer, David Julius, Frank Bosmans
The Nav1.1 voltage-gated sodium channel is a critical contributor to excitability in the brain, where pathological loss of function leads to such disorders as epilepsy, Alzheimer's disease, and autism. This voltage-gated sodium (Nav) channel subtype also plays an important role in mechanical pain signaling by primary afferent somatosensory neurons. Therefore, pharmacologic modulation of Nav1.1 represents a potential strategy for treating excitability disorders of the brain and periphery. Inactivation is a complex aspect of Nav channel gating and consists of fast and slow components, each of which may involve a contribution from one or more voltage-sensing domains...
June 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28604149/risk-of-second-seizure-in-pediatric-patients-with-idiopathic-autism
#11
Asad A Qadir, Emily Obringer, Joseph Hageman, Charles Marcuccilli
PURPOSE: Epilepsy is a comorbidity of idiopathic autism spectrum disorder. The aim was to characterize the risk and time of second seizure in children with idiopathic autism spectrum disorder. METHODS: A retrospective review was performed at the University of Chicago and NorthShore University HealthSystem. Patients with idiopathic autism spectrum disorder, ≥1 seizure, and age 2 to 23 years were included. RESULTS: 153 patients were included; 141 (92%) had a second seizure...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28588858/a-chromosomal-microdeletion-of-15q-in-a-female-patient-with-epilepsy-id-and-autism-spectrum-disorder-a-case-report
#12
Dina F Ahram, Yasser Al-Sarraj, Rowaida Z Taha, Saba F Elhag, Fouad A Al-Shaban, Hatem El-Shanti, Marios Kambouris
15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD, we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588452/structure-function-analysis-of-the-glyr-%C3%AE-2-subunit-autism-mutation-p-r323l-reveals-a-gain-of-function
#13
Yan Zhang, Thi Nhu Thao Ho, Robert J Harvey, Joseph W Lynch, Angelo Keramidas
Glycine receptors (GlyRs) containing the α2 subunit regulate cortical interneuron migration. Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical progenitor homeostasis, leading to a depletion of projection neurons and moderate microcephaly in newborn mice. In humans, rare variants in GLRA2, which is located on the X chromosome, are associated with autism spectrum disorder (ASD) in the hemizygous state in males. These include a microdeletion (GLRA2∆ex8-9) and missense mutations in GLRA2 (p...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#14
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28588275/de-novo-non-synonymous-tbl1xr1-mutation-alters-wnt-signaling-activity
#15
Akira Nishi, Shusuke Numata, Atsushi Tajima, Xiaolei Zhu, Koki Ito, Atsushi Saito, Yusuke Kato, Makoto Kinoshita, Shinji Shimodera, Shinji Ono, Shinichiro Ochi, Akira Imamura, Naohiro Kurotaki, Shu-Ichi Ueno, Nakao Iwata, Kiyoshi Fukui, Issei Imoto, Atsushi Kamiya, Tetsuro Ohmori
Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese patients with sporadic schizophrenia and their parents. Among nine SNVs, we explored the functional impact of the de novo mutation in TBL1XR1 [c.30 C > G (p.Phe10Leu)], a gene previously found to be associated with autism spectrum disorder and epilepsy. Protein structural analysis revealed that Phe10Leu mutation may decrease the structural stability of the TBL1XR1 protein...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28566195/parenting-stress-in-parents-of-children-with-refractory-epilepsy-before-and-after-vagus-nerve-stimulation-implantation
#16
Sung-Tse Li, Nan-Chang Chiu, Yung-Ting Kuo, Ein-Yiao Shen, Pei-Chieh Tsai, Che-Sheng Ho, Wen-Hsiang Wu, Juei-Chao Chen
OBJECTIVES: The purpose of this study was to evaluate parenting stress in parents of children with refractory epilepsy before and after their children received vagus nerve stimulation (VNS) implantation. METHODS: Parents of children with refractory epilepsy completed the Parenting Stress Index (PSI) under a psychologist's assessment before and at least 12 months after their children received VNS implantation. The PSI questionnaire measures parenting stress in two domains; a parent domain with seven subscales, and a child domain with six...
May 17, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28545673/burst-suppression-pattern-on-electroencephalogram-secondary-to-valproic-acid-induced-hyperammonemic-encephalopathy
#17
Koshi A Cherian, Alan D Legatt
BACKGROUND: Valproic acid may induce hyperammonemic encephalopathy. Various electroencephalogram (EEG) abnormalities have been documented in association with this condition, but not burst suppression, an abnormal EEG pattern that is associated with severe encephalopathy. METHODS: Serial EEGs, clinical observations, and laboratory findings were analyzed. PATIENT DESCRIPTION: This 13-year-old girl with autism and intractable epilepsy experienced increased seizures; her valproic acid dose was increased and other antiepileptic drugs were administered...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28536506/axonal-membranes-and-their-domains-assembly-and-function-of-the-axon-initial-segment-and-node-of-ranvier
#18
REVIEW
Andrew D Nelson, Paul M Jenkins
Neurons are highly specialized cells of the nervous system that receive, process and transmit electrical signals critical for normal brain function. Here, we review the intricate organization of axonal membrane domains that facilitate rapid action potential conduction underlying communication between complex neuronal circuits. Two critical excitable domains of vertebrate axons are the axon initial segment (AIS) and the nodes of Ranvier, which are characterized by the high concentrations of voltage-gated ion channels, cell adhesion molecules and specialized cytoskeletal networks...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28528670/glycine-receptor-drug-discovery
#19
Joseph W Lynch, Yan Zhang, Sahil Talwar, Argel Estrada-Mondragon
Postsynaptic glycine receptor (GlyR) chloride channels mediate inhibitory neurotransmission in the spinal cord and brain stem, although presynaptic and extrasynaptic GlyRs are expressed more widely throughout the brain. In humans, GlyRs are assembled as homo- or heteromeric pentamers of α1-3 and β subunits. GlyR malfunctions have been linked to a range of neurological disorders including hyperekplexia, temporal lobe epilepsy, autism, breathing disorders, and chronic inflammatory pain. Although it is possible that GlyRs may eventually be clinically targeted for a variety of neurological disorders, most research to date has focused on developing GlyR-targeted treatments for chronic pain...
2017: Advances in Pharmacology
https://www.readbyqxmd.com/read/28520841/chronic-inflammatory-pain-impairs-mglur5-mediated-depolarization-induced-suppression-of-excitation-in-the-anterior-cingulate-cortex
#20
Baolin Guo, Jiaqi Wang, Han Yao, Keke Ren, Jing Chen, Jing Yang, Guohong Cai, Haiying Liu, Yunlong Fan, Wenting Wang, Shengxi Wu
The anterior cingulate cortex (ACC) is a critical hub for nociceptive perception and pain-related anxiety. Long-term synaptic plasticity in ACC was found to be important for chronic inflammatory pain and pain-related anxiety. As short-term synaptic plasticity, depolarization-induced suppression of excitation (DSE) is involved in several conditions, such as chronic stress, epilepsy, and autism. However, it is still unknown whether DSE in the ACC is involved in the central sensitization of pain and anxiety. Using a whole-cell patch clamp, calcium imaging, western blot, and behavioral testing, we found that DSE was induced by a 2 s depolarization in postsynaptic pyramidal cells in ACC...
May 17, 2017: Cerebral Cortex
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