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Int J Physiol Pathophysiol Pharmacol 2011;3(3):223-235.
The role of GABAergic system in neurodevelopmental disorders: a focus on autism
Paola Sgadò, Mark Dunleavy, Sacha Genovesi, Giovanni Provenzano, Yuri Bozzi
Laboratory of Molecular Neuropathology, Centre for Integrative Biology (CIBIO), University of Trento, Italy; Department of Physiology and
Medical Physics, Royal College of Surgeons in Ireland, Dublin, Ireland; CNR Neuroscience Institute, Pisa, Italy.
Received August 24, 2011; accepted September 5, 2011; Epub September 9, 2011; Published September 30, 2011
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.
Keywords: Seizure, mental retardation, neurological disorder, neurotransmission
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Address all correspondence to:
Dr. Yuri Bozzi
Laboratory of Molecular Neuropathology
Centre for Integrative Biology (CIBIO)
University of Trento
via delle Regole 101, 38123 Mattarello, Trento, Italy.
Tel: +39 461 283651; Fax: 39 461 283937