Genetic Insights into Pediatric Neurological Disorders: From Mechanisms to Therapies

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 15 May 2026 | Viewed by 635

Special Issue Editor


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Guest Editor
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea
Interests: developmental delay; autism spectrum disorder; epilepsy; neurogenetics

Special Issue Information

Dear Colleagues, 

Pediatric neurological disorders represent a complex and heterogeneous group of conditions caused by diverse genetic and molecular mechanisms. Advances in next-generation sequencing and transcriptomic technologies have greatly enhanced our understanding of their underlying biology, particularly in disorders such as epilepsy, autism spectrum disorder, genetic leukodystrophies, metabolic diseases with prevalent CNS involvement, and developmental delay. 

This Special Issue, entitled “Genetic Insights into Pediatric Neurological Disorders: From Mechanisms to Therapies,” aims to highlight cutting-edge research on molecular genetics, genotype–phenotype correlations, multi-omics approaches, and emerging therapeutic strategies, including antisense oligonucleotide therapy, CRISPR-based gene editing, and brain organoid models. 

We invite submissions of original research, reviews, and communications focusing on the genetic architecture, pathophysiological mechanisms, and translational applications that advance precision medicine in pediatric neurology.

Dr. Ji Yoon Han
Guest Editor

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Keywords

  • pediatric neurological disorders
  • neurogenetics
  • multi-omics integration
  • precision medicine
  • brain organoid models

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Published Papers (1 paper)

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Research

14 pages, 252 KB  
Article
Maternal RFC1 Gene Polymorphisms and Neural Tube Defects: A Case–Control Study in Ethiopia
by Hasset Tamirat Molla, Dawd Gashu, Barbara Stoecker and Winyoo Chowanadisai
Genes 2026, 17(4), 478; https://doi.org/10.3390/genes17040478 - 17 Apr 2026
Viewed by 234
Abstract
Background: Etiologies of neural tube defects (NTDs) are multifactorial. Genetic, epigenetic and environmental factors may contribute to their reported variation in prevalence across the globe. Ethiopia has among the highest reported NTD prevalence globally, making investigation of genetic determinants in this high-risk population [...] Read more.
Background: Etiologies of neural tube defects (NTDs) are multifactorial. Genetic, epigenetic and environmental factors may contribute to their reported variation in prevalence across the globe. Ethiopia has among the highest reported NTD prevalence globally, making investigation of genetic determinants in this high-risk population particularly important for advancing the understanding of NTD etiology. Genes involved in folate metabolism, such as the reduced folate carrier 1 (RFC1), have been investigated for the potential associations with NTDs, but findings throughout the literature remain inconsistent and inconclusive. Objective: The aim of this study was to determine an association of RFC-1 polymorphism at rs1131596 and rs1051266 loci (functional variants previously implicated in folate transport efficiency and NTD susceptibility) among mothers with the occurrence of NTDs in their offspring in Ethiopia. Methods: A case–control study involving 250 mothers (187 controls and 63 cases) of children with or without NTDs was conducted in Addis Ababa, Ethiopia from April 2022, to September 2024. A total of 250 maternal whole blood samples were systematically collected and subjected to genetic analysis at loci rs1131596 and rs1051266 by polymerase chain reaction (PCR) and Sanger sequencing. Results: Detection of heterozygous (TC) and homozygous (CC) genotypes for SNP rs1131596 (−43T>C) in the RFC1 gene was 27.2%, with heterozygous (TC) comprising 10.4% and homozygous (CC) 16.8%. In contrast, for the rs1051266 (80A>G), the prevalence of the AG polymorphism was 28% while the GG polymorphism was 16.4%, resulting in a cumulative prevalence of 44.4%. The presence of maternal RFC-1 polymorphism at these two locations were not associated with significantly (p = 0.601 & p = 0.225 respectively) higher odds for NTD births. Conclusions: This study did not reveal significant association between maternal RFC1 gene polymorphisms and NTD-affected births. Comprehensive whole-genome sequencing of affected off-spring is essential to identify specific mutations or polymorphisms that may individually or collaboratively affect the risk of NTDs in the Ethiopian context. Full article
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