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Abnormal synaptic transmission

MedGen UID:
866736
Concept ID:
C4021083
Pathologic Function
Synonym: Abnormality of neurotransmitter metabolism
 
HPO: HP:0012535

Definition

An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. [from HPO]

Professional guidelines

PubMed

Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P
Hum Mol Genet 2016 Jun 1;25(11):2314-2323. Epub 2016 May 4 doi: 10.1093/hmg/ddw102. PMID: 27146843

Recent clinical studies

Etiology

Espinoza IO, Reynoso C, Chávez G, Engel AG
Medwave 2019 Jun 4;19(5):e7645. doi: 10.5867/medwave.2019.05.7645. PMID: 31226102Free PMC Article
Babic T, Travagli RA
Biochem Pharmacol 2014 Feb 15;87(4):535-42. Epub 2013 Dec 16 doi: 10.1016/j.bcp.2013.12.001. PMID: 24355565Free PMC Article
Erdem H, Yiğit A, Culcuoğlu A, Mutluer N
Ups J Med Sci 2001;106(3):197-203. doi: 10.3109/2000-1967-143. PMID: 12166512

Diagnosis

Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell'Orco D
Int J Mol Sci 2021 Apr 14;22(8) doi: 10.3390/ijms22084030. PMID: 33919796Free PMC Article
Espinoza IO, Reynoso C, Chávez G, Engel AG
Medwave 2019 Jun 4;19(5):e7645. doi: 10.5867/medwave.2019.05.7645. PMID: 31226102Free PMC Article

Therapy

Espinoza IO, Reynoso C, Chávez G, Engel AG
Medwave 2019 Jun 4;19(5):e7645. doi: 10.5867/medwave.2019.05.7645. PMID: 31226102Free PMC Article
Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P
Hum Mol Genet 2016 Jun 1;25(11):2314-2323. Epub 2016 May 4 doi: 10.1093/hmg/ddw102. PMID: 27146843
Hanaya R, Kiura Y, Serikawa T, Kurisu K, Arita K, Sasa M
Brain Res Bull 2011 Nov 25;86(5-6):334-9. Epub 2011 Sep 25 doi: 10.1016/j.brainresbull.2011.09.015. PMID: 21968023
Erdem H, Yiğit A, Culcuoğlu A, Mutluer N
Ups J Med Sci 2001;106(3):197-203. doi: 10.3109/2000-1967-143. PMID: 12166512

Prognosis

Hadjiagapiou MS, Krashias G, Christodoulou C, Pantzaris M, Lambrianides A
Int J Mol Sci 2023 Nov 10;24(22) doi: 10.3390/ijms242216170. PMID: 38003360Free PMC Article
Caldeira GL, Inácio AS, Beltrão N, Barreto CAV, Rodrigues MV, Rondão T, Macedo R, Gouveia RP, Edfawy M, Guedes J, Cruz B, Louros SR, Moreira IS, Peça J, Carvalho AL
Mol Psychiatry 2022 May;27(5):2457-2469. Epub 2022 Mar 7 doi: 10.1038/s41380-022-01487-w. PMID: 35256745Free PMC Article
Beltinger A, Riffel B, Stöhr M
Eur Arch Psychiatry Neurol Sci 1987;236(6):358-63. doi: 10.1007/BF00377425. PMID: 3678295

Clinical prediction guides

Caldeira GL, Inácio AS, Beltrão N, Barreto CAV, Rodrigues MV, Rondão T, Macedo R, Gouveia RP, Edfawy M, Guedes J, Cruz B, Louros SR, Moreira IS, Peça J, Carvalho AL
Mol Psychiatry 2022 May;27(5):2457-2469. Epub 2022 Mar 7 doi: 10.1038/s41380-022-01487-w. PMID: 35256745Free PMC Article
Marino V, Dal Cortivo G, Maltese PE, Placidi G, De Siena E, Falsini B, Bertelli M, Dell'Orco D
Int J Mol Sci 2021 Apr 14;22(8) doi: 10.3390/ijms22084030. PMID: 33919796Free PMC Article
Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P
Hum Mol Genet 2016 Jun 1;25(11):2314-2323. Epub 2016 May 4 doi: 10.1093/hmg/ddw102. PMID: 27146843
Erdem H, Yiğit A, Culcuoğlu A, Mutluer N
Ups J Med Sci 2001;106(3):197-203. doi: 10.3109/2000-1967-143. PMID: 12166512

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