Literature DB >> 21941613

The role of GABAergic system in neurodevelopmental disorders: a focus on autism and epilepsy.

Paola Sgadò, Mark Dunleavy, Sacha Genovesi, Giovanni Provenzano, Yuri Bozzi.   

Abstract

Autism spectrum disorders (ASD) and epilepsy are very common neurological disorders of childhood, with an estimated incidence of about 0.5 - 1 % in worldwide population. ASD and epilepsy are often associated, suggesting that common neurodevelopmental bases may exist for these two disorders. The neurodevelopmental bases of both ASD and epilepsy have been clearly showed by a number of genetic, neuroimaging and neuropathological studies. In recent years, dysfunction of inhibitory GABAergic circuits has been proposed as a cause for both disorders. Several studies performed on both animal models and postmortem human samples indicate that GABAergic neurons and circuits are altered in both ASD and epilepsy, suggesting that the excitation/inhibition imbalance resulting from neurodevelopmental defects in GABAergic circuitry might represent a common pathogenetic mechanism for these disorders. Here, we will review the most significant studies supporting this hypothesis.

Entities:  

Keywords:  Seizure; mental retardation; neurological disorder; neurotransmission

Year:  2011        PMID: 21941613      PMCID: PMC3175748     

Source DB:  PubMed          Journal:  Int J Physiol Pathophysiol Pharmacol        ISSN: 1944-8171


  126 in total

Review 1.  Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond.

Authors:  Aaron W Grossman; Georgina M Aldridge; Ivan Jeanne Weiler; William T Greenough
Journal:  J Neurosci       Date:  2006-07-05       Impact factor: 6.167

2.  Local GABA circuit control of experience-dependent plasticity in developing visual cortex.

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Journal:  Science       Date:  1998-11-20       Impact factor: 47.728

Review 3.  Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Authors:  Catalina Betancur
Journal:  Brain Res       Date:  2010-12-01       Impact factor: 3.252

Review 4.  GABAergic mechanisms in epilepsy.

Authors:  D M Treiman
Journal:  Epilepsia       Date:  2001       Impact factor: 5.864

5.  A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

Authors: 
Journal:  Am J Hum Genet       Date:  2001-07-30       Impact factor: 11.025

6.  Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes.

Authors:  Sebastiano A Musumeci; Giuseppe Calabrese; Carmela M Bonaccorso; Simona D'Antoni; Judith R Brouwer; Cathy E Bakker; Maurizio Elia; Raffaele Ferri; David L Nelson; Ben A Oostra; Maria Vincenza Catania
Journal:  Exp Neurol       Date:  2006-09-27       Impact factor: 5.330

7.  Disruption of neurexin 1 associated with autism spectrum disorder.

Authors:  Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn-Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James F Gusella
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Epilepsy in patients with pervasive developmental disorder not otherwise specified.

Authors:  Antonia Parmeggiani; Annio Posar; Chiara Antolini; Maria Cristina Scaduto; Margherita Santucci; Paola Giovanardi-Rossi
Journal:  J Child Neurol       Date:  2007-10       Impact factor: 1.987

9.  Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

Authors:  Hsiao-Tuan Chao; Hongmei Chen; Rodney C Samaco; Mingshan Xue; Maria Chahrour; Jong Yoo; Jeffrey L Neul; Shiaoching Gong; Hui-Chen Lu; Nathaniel Heintz; Marc Ekker; John L R Rubenstein; Jeffrey L Noebels; Christian Rosenmund; Huda Y Zoghbi
Journal:  Nature       Date:  2010-11-11       Impact factor: 49.962

Review 10.  Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

Authors:  C Lintas; A M Persico
Journal:  J Med Genet       Date:  2008-08-26       Impact factor: 6.318

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  17 in total

1.  Maternal immune activation by LPS selectively alters specific gene expression profiles of interneuron migration and oxidative stress in the fetus without triggering a fetal immune response.

Authors:  Devon B Oskvig; Abdel G Elkahloun; Kory R Johnson; Terry M Phillips; Miles Herkenham
Journal:  Brain Behav Immun       Date:  2012-01-30       Impact factor: 7.217

2.  Toxoplasma infection induces microglia-neuron contact and the loss of perisomatic inhibitory synapses.

Authors:  Gabriela L Carrillo; Valerie A Ballard; Taylor Glausen; Zack Boone; Joseph Teamer; Cyrus L Hinkson; Elizabeth A Wohlfert; Ira J Blader; Michael A Fox
Journal:  Glia       Date:  2020-03-11       Impact factor: 7.452

3.  Combined Maternal Exposure to Cypermethrin and Stress Affect Embryonic Brain and Placental Outcomes in Mice.

Authors:  Benjamin A Elser; Khaled Kayali; Ram Dhakal; Bailey O'Hare; Kai Wang; Hans-Joachim Lehmler; Hanna E Stevens
Journal:  Toxicol Sci       Date:  2020-06-01       Impact factor: 4.849

4.  Loss of GABAergic neurons in the hippocampus and cerebral cortex of Engrailed-2 null mutant mice: implications for autism spectrum disorders.

Authors:  Paola Sgadò; Sacha Genovesi; Anna Kalinovsky; Giulia Zunino; Francesca Macchi; Manuela Allegra; Elisa Murenu; Giovanni Provenzano; Prem Prakash Tripathi; Simona Casarosa; Alexandra L Joyner; Yuri Bozzi
Journal:  Exp Neurol       Date:  2013-01-27       Impact factor: 5.330

5.  A terminal selector prevents a Hox transcriptional switch to safeguard motor neuron identity throughout life.

Authors:  Weidong Feng; Yinan Li; Pauline Dao; Jihad Aburas; Priota Islam; Benayahu Elbaz; Anna Kolarzyk; André Ex Brown; Paschalis Kratsios
Journal:  Elife       Date:  2020-01-03       Impact factor: 8.140

6.  Cannabinoid Exposure via Lactation in Rats Disrupts Perinatal Programming of the Gamma-Aminobutyric Acid Trajectory and Select Early-Life Behaviors.

Authors:  Andrew F Scheyer; Milene Borsoi; Jim Wager-Miller; Anne-Laure Pelissier-Alicot; Michelle N Murphy; Ken Mackie; Olivier J J Manzoni
Journal:  Biol Psychiatry       Date:  2019-09-05       Impact factor: 13.382

7.  Paracrine Role for Somatostatin Interneurons in the Assembly of Perisomatic Inhibitory Synapses.

Authors:  Jianmin Su; Danielle Basso; Shivani Iyer; Kaiwen Su; Jessica Wei; Michael A Fox
Journal:  J Neurosci       Date:  2020-08-26       Impact factor: 6.167

8.  The Peptide Network between Tetanus Toxin and Human Proteins Associated with Epilepsy.

Authors:  Guglielmo Lucchese; Jean Pierre Spinosa; Darja Kanduc
Journal:  Epilepsy Res Treat       Date:  2014-06-01

Review 9.  GABA system dysfunction in autism and related disorders: from synapse to symptoms.

Authors:  Suzanne Coghlan; Jamie Horder; Becky Inkster; M Andreina Mendez; Declan G Murphy; David J Nutt
Journal:  Neurosci Biobehav Rev       Date:  2012-07-25       Impact factor: 8.989

10.  Stress during first pregnancy increases seizure threshold in adult male offspring.

Authors:  Peyman Pajand; Mahmoud Elahdadi Salmani; Hooman Shajiee; Hasan Abiri; Iran Goudarzi; Kataneh Abrari
Journal:  Iran J Basic Med Sci       Date:  2014-01       Impact factor: 2.699

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