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Article

Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms.

Neuropediatrics - 1 Dec 2007

Liu Z-L, He B, Fang F, Tang C-Y, Zou L-P

Abstract excerpt

OBJECTIVES: Infantile spasms is a severe epileptic encephalopathy of infancy. ACTH that ameliorates infantile spasms might act through activating the central melanocortin-4 receptor (MC4R) to suppress excessive production of corticotrophin-releasing hormone (CRH). This study aimed to elucidate an association between the genetic variants of the MC4R gene and infantile spasms. METHODS: The study population...

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Share to Adrenocorticotropic Hormone
Share to Gene Frequency
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Polymorphism, Single-Stranded Conformational

Share to Promoter Regions, Genetic

Share to Receptor, Melanocortin, Type 4

Share to Spasms, Infantile

Source

Identifiers

PMID: 18461507
DOI: 10.1055/s-2008-1065358

Genes

CRH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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