keyword
MENU ▼
Read by QxMD icon Read
search

Autism epilepsy

keyword
https://www.readbyqxmd.com/read/28428202/precision-physiology-and-rescue-of-brain-ion-channel-disorders
#1
REVIEW
Jeffrey Noebels
Ion channel genes, originally implicated in inherited excitability disorders of muscle and heart, have captured a major role in the molecular diagnosis of central nervous system disease. Their arrival is heralded by neurologists confounded by a broad phenotypic spectrum of early-onset epilepsy, autism, and cognitive impairment with few effective treatments. As detection of rare structural variants in channel subunit proteins becomes routine, it is apparent that primary sequence alone cannot reliably predict clinical severity or pinpoint a therapeutic solution...
April 20, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28416445/%C3%AE-o-conotoxin-gexiva-disulfide-bond-isomers-exhibit-differential-sensitivity-for-various-nicotinic-acetylcholine-receptors-but-retain-potency-and-selectivity-for-the-human-%C3%AE-9%C3%AE-10-subtype
#2
Dongting Zhangsun, Xiaopeng Zhu, Quentin Kaas, Yong Wu, David J Craik, J Michael McIntosh, Sulan Luo
Nicotinic acetylcholine receptor (nAChR) subtypes exhibit distinct neuropharmacological properties that are involved in a range of neuropathological conditions, including pain, addiction, epilepsy, autism, schizophrenia, Tourette's syndrome, Alzheimer's and Parkinson's diseases, as well as many types of cancer. The α9α10 nAChR is a potential target in chronic pain, wound healing, the pathophysiology of the auditory system, and breast and lung cancers. αO-conotoxin GeXIVA is a potent antagonist of rat α9α10 nAChRs, with the 'bead' disulfide bond isomer displaying the lowest IC50 of the three possible isomers...
April 14, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28413441/prevalence-and-associated-factors-of-attention-deficit-hyperactivity-disorder-adhd-among-ugandan-children-a-cross-sectional-study
#3
Joan Wamulugwa, Angelina Kakooza, Sabrina Bakeera Kitaka, Joyce Nalugya, Mark Kaddumukasa, Shirley Moore, Martha Sajatovic, Elly Katabira
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is a common neuropsychiatric disorder among the children. The burden of ADHD or its associated factors in Uganda are not known. The objective of this study was to determine the prevalence and the associated factors of ADHD among children attending the neurology and psychiatry clinics at Mulago National Referral Hospital. METHODS: Using the disruptive behavior scale (45 items), we investigated the presence of ADHD symptoms among children attending Mulago Hospital...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/28412919/neurological-disorders-in-medical-use-of-cannabis-an-update
#4
Renata Solimini, Maria Concetta Rotolo, Simona Pichini, Roberta Pacifici
Medical cannabis is increasingly used as a treatment or adjunct treatment with different levels of efficacy in several neurological disorders or related symptoms (such as multiple sclerosis, autism, Parkinson and Alzheimer disease, Tourette's syndrome, Huntington's disease, neuropathic pain, epilepsy, headache), as well as in other medical conditions (e.g. nausea and vomiting, glaucoma, appetite stimulation, cancer, inflammatory conditions, asthma). Nevertheless, a number of neurological adverse effects from use of medical cannabis on the short- and on the long- term have been reported, in addition to other adverse health events...
April 13, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28399932/guideline-recommendations-for-diagnosis-and-clinical-management-of-ring14-syndrome-first-report-of-an-ad-hoc-task-force
#5
REVIEW
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
BACKGROUND: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. RESULTS: The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28386848/identification-of-de-novo-dnmt3a-mutations-that-cause-west-syndrome-by-using-whole-exome-sequencing
#6
Zhenwei Liu, Zhongshan Li, Xiao Zhi, Yaoqiang Du, Zhongdong Lin, Jinyu Wu
Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this study, we searched for potential causal DNMs by using high-coverage WES of four unrelated Chinese parent-offspring trios affected by West syndrome. Through extensive bioinformatic analysis, we identified three novel DNMs in DNMT3A, CDKL5, and MAMDC2 in three trios and two compound heterozygous mutations in KMT2A in one trio...
April 6, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#7
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28378778/biallelic-mutations-in-the-gene-encoding-eef1a2-cause-seizures-and-sudden-death-in-f0-mice
#8
Faith C J Davies, Jilly E Hope, Fiona McLachlan, Francis Nunez, Jennifer Doig, Hemant Bengani, Colin Smith, Catherine M Abbott
De novo heterozygous missense mutations in the gene encoding translation elongation factor eEF1A2 have recently been found to give rise to neurodevelopmental disorders. Children with mutations in this gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequently occurring mutation is G70S. It has been known for many years that complete loss of eEF1A2 in mice causes motor neuron degeneration and early death; on the other hand heterozygous null mice are apparently normal...
April 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#9
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28376926/cancer-and-central-nervous-system-disorders-protocol-for-an-umbrella-review-of-systematic-reviews-and-updated-meta-analyses-of-observational-studies
#10
Ferrán Catalá-López, Brian Hutton, Jane A Driver, Matthew J Page, Manuel Ridao, José M Valderas, Adolfo Alonso-Arroyo, Jaume Forés-Martos, Salvador Martínez, Ricard Gènova-Maleras, Diego Macías-Saint-Gerons, Benedicto Crespo-Facorro, Eduard Vieta, Alfonso Valencia, Rafael Tabarés-Seisdedos
BACKGROUND: The objective of this study will be to synthesize the epidemiological evidence and evaluate the validity of the associations between central nervous system disorders and the risk of developing or dying from cancer. METHODS/DESIGN: We will perform an umbrella review of systematic reviews and conduct updated meta-analyses of observational studies (cohort and case-control) investigating the association between central nervous system disorders and the risk of developing or dying from any cancer or specific types of cancer...
April 4, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28373848/the-current-status-of-the-ketogenic-diet-in-psychiatry
#11
REVIEW
Emmanuelle C S Bostock, Kenneth C Kirkby, Bruce V M Taylor
BACKGROUND: The ketogenic diet (KD) has been used in treatment-resistant epilepsy since the 1920s. It has been researched in a variety of neurological conditions in both animal models and human trials. The aim of this review is to clarify the potential role of KD in psychiatry. METHODS: Narrative review of electronic databases PubMED, PsychINFO, and Scopus. RESULTS: The search yielded 15 studies that related the use of KD in mental disorders including anxiety, depression, bipolar disorder, schizophrenia, autism spectrum disorder (ASD), and attention deficit hyperactivity disorder (ADHD)...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28364455/cntnap2-knockout-rats-and-mice-exhibit-epileptiform-activity-and-abnormal-sleep-wake-physiology
#12
Alexia M Thomas, Michael D Schwartz, Michael D Saxe, Thomas S Kilduff
Study Objectives: Although recent innovations have enabled modification of the rat genome, it is unclear whether enhanced utility of rodents as human disease models will result. We compared electroencephalogram (EEG) and behavioral phenotypes of rats and mice with homozygous deletion of Cntnap2, a gene associated with cortical dysplasia-focal epilepsy (CDFE) and autism spectrum disorders (ASD). Methods: Male contactin-associated protein-like 2 (Cntnap2) knockout (KO) and wild-type (WT) rats and male Cntnap2 KO and WT mice were implanted with telemeters to record EEG, electromyogram, body temperature, and locomotor activity...
January 1, 2017: Sleep
https://www.readbyqxmd.com/read/28346892/characterizing-regression-in-phelan-mcdermid-syndrome-22q13-deletion-syndrome
#13
Gillian Reierson, Jon Bernstein, Wendy Froehlich-Santino, Alexander Urban, Carolin Purmann, Sean Berquist, Josh Jordan, Ruth O'Hara, Joachim Hallmayer
PURPOSE: To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. METHODS: The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review...
March 16, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28334947/protocadherin-19-pcdh19-interacts-with-paraspeckle-protein-nono-to-co-regulate-gene-expression-with-estrogen-receptor-alpha-er%C3%AE
#14
Duyen H Pham, Chuan Tan, Claire C Homan, Kristy Kolc, Mark Corbett, Dale McAninch, Archa Fox, Paul Thomas, Raman Kumar, Jozef Gecz
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline and behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established X-chromosome inheritance. The disease mechanism is not known. Cellular mosaicism is the likely driver. We have identified p54nrb/NONO, a multifunctional nuclear paraspeckle protein with known roles in nuclear hormone receptor gene regulation, as a PCDH19 protein interacting partner...
March 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#15
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28285739/neuropsychiatric-comorbidities-in-adults-with-phenylketonuria-a-retrospective-cohort-study
#16
Deborah A Bilder, Joyce A Kobori, Jessica L Cohen-Pfeffer, Erin M Johnson, Elaina R Jurecki, Mitzie L Grant
Adults with phenylketonuria (PKU) may experience neurologic and psychiatric disorders, including intellectual disability, anxiety, depression, and neurocognitive dysfunction. Identifying the prevalence and prevalence ratios of these conditions will inform clinical treatment. This nested, case-controlled study used International Classification of Diseases, Ninth Revision (ICD-9) codes from the MarketScan® insurance claims databases from 2006 to 2012 and healthcare claims data for US-based employer and government-sponsored health plans...
March 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28284392/diseases-of-the-synaptic-vesicle-a-potential-new-group-of-neurometabolic-disorders-affecting-neurotransmission
#17
E Cortès-Saladelafont, A Tristán-Noguero, R Artuch, X Altafaj, A Bayès, A García-Cazorla
The general concept of inborn error of metabolism is currently evolving into the interface between classical biochemistry and cellular biology. Basic neuroscience is providing increasing knowledge about the mechanisms of neurotransmission and novel related disorders are being described. There is a necessity of updating the classic concept of "inborn error of neurotransmitters (NT)" that considers mainly defects of synthesis and catabolism and transport of low weight NT molecules. Monogenic defects of the synaptic vesicle (SV), and especially those affecting the SV cycle are a potential new group of NT disorders since they end up in abnormal NT turnover and release...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284390/creatine-defects-and-central-nervous-system
#18
Carmen Fons, Jaume Campistol
Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an early diagnosis and treatment is essential. The aim of this article is to review the Cr metabolism and function in the central nervous system. We describe the optimal diagnostic protocol in Cr deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS), and molecular analysis...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28270747/metabolic-dysfunction-underlying-autism-spectrum-disorder-and-potential-treatment-approaches
#19
REVIEW
Ning Cheng, Jong M Rho, Susan A Masino
Autism spectrum disorder (ASD) is characterized by deficits in sociability and communication, and increased repetitive and/or restrictive behaviors. While the etio-pathogenesis of ASD is unknown, clinical manifestations are diverse and many possible genetic and environmental factors have been implicated. As such, it has been a great challenge to identify key neurobiological mechanisms and to develop effective treatments. Current therapies focus on co-morbid conditions (such as epileptic seizures and sleep disturbances) and there is no cure for the core symptoms...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28265243/altered-intermittent-rhythmic-delta-and-theta-activity-in-the-electroencephalographies-of-high-functioning-adult-patients-with-autism-spectrum-disorder
#20
Dominique Endres, Simon Maier, Bernd Feige, Nicole A Posielski, Kathrin Nickel, Dieter Ebert, Andreas Riedel, Alexandra Philipsen, Evgeniy Perlov, Ludger Tebartz van Elst
Background: Autism spectrum disorder (ASD) is often associated with epilepsy. Previous studies have also shown increased rates of electroencephalographic (EEG) alteration in ASD patients without epilepsy. The aim of this study was to compare the rate of intermittent rhythmic delta and theta activity (IRDA/IRTA) events between high-functioning adult patients with ASD and matched healthy controls. Materials and Methods: Routine EEG records of 19 ASD patients and 19 matched controls were screened for IRDA/IRTA using a fully data driven analysis with fixed thresholds...
2017: Frontiers in Human Neuroscience
keyword
keyword
87132
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"