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Journal of Pediatric Neurology 2024; 22(01): 013-020
DOI: 10.1055/s-0041-1727269
Review Article

Gamma-Aminobutyric Acid Type A Receptor Genes and Their Related Epilepsies

Viviana Brafa Musicoro   *
1   Pediatric Postgraduate Residency Program, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Vincenzo Sortino   *
1   Pediatric Postgraduate Residency Program, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Giulia Pecora
1   Pediatric Postgraduate Residency Program, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Monica Tosto
1   Pediatric Postgraduate Residency Program, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Manuela Lo Bianco
1   Pediatric Postgraduate Residency Program, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Rachele Soma
2   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
,
Catia Romano
3   Italian Blind Union, Catania Section, Italy
,
Raffaele Falsaperla
4   Unit of Pediatrics and Pediatric Emergency, University Hospital “Policlinico Rodolico-San Marco”, Catania, Italy
5   Unit of Neonatal Intensive Care and Neonatology, University Hospital “Policlinico Rodolico-San Marco”, Catania, Italy
,
Andrea D. Praticò 
2   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy
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Abstract

Gamma-aminobutyric acid type A (GABA-A) receptor subunit gene mutations, which include GABRA1, GABRB3, GABRD, and GABRG2, are often involved in several genetic epilepsy syndromes and other neuropsychiatric diseases like autism spectrum disorder, schizophrenia, and anxiety. GABA-A are ligand-gated ionic channels, and are involved firstly in the fast inhibitory synaptic transmission of the central nervous system. The GABA receptors include the ionotropic GABA-A and GABA-C receptors and the metabotropic GABA-B receptors. According to the site in which mutations occur, they cause disorders in channel opening, “lock-and-pull” receptor system functioning, and capable of causing a specific epilepsy phenotype. The aim of this article is to summarize the most recent literature findings, considering genetic mutations, clinical features, genotype/phenotype correlation, and therapy about neurodevelopment diseases correlated to GABA receptors dysfunction, in particular epilepsy. According to our findings, we conclude that further mutation analysis could permit genotype–phenotype correlation and give more information about the best efficient treatment, even if—at present—more clinical and genetic studies are necessary.

Keywords

GABA receptor - metabotropic - ionotropic - epilepsies - encephalopathy

* Both the authors contributed equally to this article.




Publication History

Received: 24 February 2021

Accepted: 25 February 2021

Article published online:
13 April 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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