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Hindi GPR56: Its Regulation in GABAergic Neurons and Possible Involvement in Neuro Developmental Disorders
*Corresponding Author: Hideyuki Okano, Department of Physiology, Keio University School of Medicine, Tokyo, Japan, Tel: +81 353633747, Email: hidokano@a2.keio.jpReceived Date: Mar 16, 2021 / Accepted Date: Mar 30, 2021 / Published Date: Apr 06, 2021
Citation: Okano H, Murayama AY (2021) GPR56: Its Regulation in GABAergic Neurons and Possible Involvement in Neuro Developmental Disorders. Neonat Pediatr Med 7:209.
Copyright: © 2021 Murayama AY, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
One-third of patients with epilepsy have intractable seizures that cannot be controlled with any currently available antiepileptic drugs . It has been well known that there are patients afflicted with epilepsy with mutations in some G protein-coupled receptors (GPCRs). Patients with the 15-bp deletion within the upstream region of non-cording exon 1m of human G protein-coupled receptors 56 (GPR56) gene exhibit cortical malformation and develop young-onset epilepsy. In our recent report , to understanding the mechanism underlying the etiological role of this 15-bp deletion , we examined the function of a cis-regulatory element containing this 15-bp in the control of expression pattern of GPR56 using marmoset as a nonhuman primate animal model. We showed that the cis-regulatory element drives expression of GPR56 preferentially in GABAergic neurons in developing brain and suggest that pathogenic mechanisms of epilepsy in patients with a 15-bp deletion may be explained in part by the developmental abnormality or dysfunction of GABAergic neurons.
