Literature DB >> 22841562

GABA system dysfunction in autism and related disorders: from synapse to symptoms.

Suzanne Coghlan1, Jamie Horder, Becky Inkster, M Andreina Mendez, Declan G Murphy, David J Nutt.   

Abstract

Autism spectrum disorders (ASDs) are neurodevelopmental syndromes characterised by repetitive behaviours and restricted interests, impairments in social behaviour and relations, and in language and communication. These symptoms are also observed in a number of developmental disorders of known origin, including Fragile X Syndrome, Rett Syndrome, and Foetal Anticonvulsant Syndrome. While these conditions have diverse etiologies, and poorly understood pathologies, emerging evidence suggests that they may all be linked to dysfunction in particular aspects of GABAergic inhibitory signalling in the brain. We review evidence from genetics, molecular neurobiology and systems neuroscience relating to the role of GABA in these conditions. We conclude by discussing how these deficits may relate to the specific symptoms observed.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2012        PMID: 22841562      PMCID: PMC4477717          DOI: 10.1016/j.neubiorev.2012.07.005

Source DB:  PubMed          Journal:  Neurosci Biobehav Rev        ISSN: 0149-7634            Impact factor:   8.989


  181 in total

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3.  The teratogenicity of anticonvulsant drugs.

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Authors:  J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
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Authors: 
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7.  Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Authors:  Benjamin M Neale; Yan Kou; Li Liu; Avi Ma'ayan; Kaitlin E Samocha; Aniko Sabo; Chiao-Feng Lin; Christine Stevens; Li-San Wang; Vladimir Makarov; Paz Polak; Seungtai Yoon; Jared Maguire; Emily L Crawford; Nicholas G Campbell; Evan T Geller; Otto Valladares; Chad Schafer; Han Liu; Tuo Zhao; Guiqing Cai; Jayon Lihm; Ruth Dannenfelser; Omar Jabado; Zuleyma Peralta; Uma Nagaswamy; Donna Muzny; Jeffrey G Reid; Irene Newsham; Yuanqing Wu; Lora Lewis; Yi Han; Benjamin F Voight; Elaine Lim; Elizabeth Rossin; Andrew Kirby; Jason Flannick; Menachem Fromer; Khalid Shakir; Tim Fennell; Kiran Garimella; Eric Banks; Ryan Poplin; Stacey Gabriel; Mark DePristo; Jack R Wimbish; Braden E Boone; Shawn E Levy; Catalina Betancur; Shamil Sunyaev; Eric Boerwinkle; Joseph D Buxbaum; Edwin H Cook; Bernie Devlin; Richard A Gibbs; Kathryn Roeder; Gerard D Schellenberg; James S Sutcliffe; Mark J Daly
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

8.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

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Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

9.  Relationship between physiological measures of excitability and levels of glutamate and GABA in the human motor cortex.

Authors:  C J Stagg; S Bestmann; A O Constantinescu; L Moreno Moreno; C Allman; R Mekle; M Woolrich; J Near; H Johansen-Berg; J C Rothwell
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10.  Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.

Authors:  R J Delahanty; J Q Kang; C W Brune; E O Kistner; E Courchesne; N J Cox; E H Cook; R L Macdonald; J S Sutcliffe
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  169 in total

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2.  The Disrupted Connectivity Hypothesis of Autism Spectrum Disorders: Time for the Next Phase in Research.

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3.  Pharmacological identification of a guanidine-containing β-alanine analogue with low micromolar potency and selectivity for the betaine/GABA transporter 1 (BGT1).

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4.  Systematic reconstruction of autism biology from massive genetic mutation profiles.

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5.  The developmental switch in GABA polarity is delayed in fragile X mice.

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7.  Relationship between absolute and relative ratios of glutamate, glutamine and GABA and severity of autism spectrum disorder.

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Review 8.  Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).

Authors:  Manijeh Mahdavi; Majid Kheirollahi; Roya Riahi; Fariborz Khorvash; Mehdi Khorrami; Maryam Mirsafaie
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Review 9.  Gephyrin: a master regulator of neuronal function?

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10.  ROCK/PKA Inhibition Rescues Hippocampal Hyperexcitability and GABAergic Neuron Alterations in a Oligophrenin-1 Knock-Out Mouse Model of X-Linked Intellectual Disability.

Authors:  Irene Busti; Manuela Allegra; Cristina Spalletti; Chiara Panzi; Laura Restani; Pierre Billuart; Matteo Caleo
Journal:  J Neurosci       Date:  2020-02-25       Impact factor: 6.167

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