Frontiers in Genetics | Neurogenomics

Original Research

Published on 05 Feb 2026

G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis

in Neurogenomics

Qi Peng
Siping Li
Fen Lv
Xiaomei Zeng
Qingqiu Cheng
Baimao Zhong
Xiaomei Lu

Frontiers in Genetics

doi 10.3389/fgene.2026.1766081

277 views

Original Research

Accepted on 04 Feb 2026

Identification of a novel CLCN2 homozygous variant in a man with leukoencephalopathy and infertility: Case report and literature review

in Neurogenomics

Yu Lijia
Weiqing Jiang
Li Cao
Zhi Geng
Jingjiong Chen

Frontiers in Genetics

Case Report

Accepted on 04 Feb 2026

Case Report: Recurrent Stroke-Like Episodes Triggered by High-Altitude Exposure in X-Linked Charcot-Marie-Tooth Disease

in Neurogenomics

Jing Zhong
Tang Yang
Bo Wu
Shuai Jiang

Frontiers in Genetics

Original Research

Published on 28 Jan 2026

RNA networks of lysosomal-related biomarkers in Parkinson’s disease and their correlations with freezing of gait-associated genes

in Neurogenomics

Zheng Qibin
Lin Lin
Chen Yibiao
Lin Peng
Wang Huiqing
Su Daoqing
Yu Lianghong

Frontiers in Genetics

doi 10.3389/fgene.2026.1632163

647 views

Opinion

Published on 12 Jan 2026

Rethinking Parkinson’s disease genetics in the precision medicine era: why genomic diversity matters?

in Neurogenomics

Camilla Teixeira Pinheiro Gusmão
Giselli Scaini
Everton Ferreira de Souza
Rafael Antônio Vicente Lacerda
Matheus de Almeida Costa
Raja Mehanna
João Quevedo
Howard Lopes Ribeiro Junior

Frontiers in Genetics

doi 10.3389/fgene.2025.1750113

1,217 views

Correction

Published on 09 Jan 2026

Correction: Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

in Neurogenomics

Mingkai Yang
Yanfang Xiao
Chanjuan Chen
Zhou Chu
Guohong Hu

Frontiers in Genetics

doi 10.3389/fgene.2025.1769021

684 views

Case Report

Published on 11 Dec 2025

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

in Neurogenomics

Mingkai Yang
Yanfang Xiao
Chanjuan Chen
Zhou Chu
Guohong Hu

Frontiers in Genetics

doi 10.3389/fgene.2025.1674158

1,115 views

Case Report

Published on 08 Dec 2025

Neuronal intranuclear inclusion disease presenting with recurrent dizziness and headache: a case report with 5-year follow-up

in Neurogenomics

Limin Li
Xinghua Luan
Kai Liu
Chengzhe Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1719182

1,304 views

Original Research

Published on 20 Nov 2025

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein–Taybi syndrome type 2 in Chinese patients

in Neurogenomics

Qiang Zhang
Qi Yang
Xunzhao Zhou
Zailong Qin
Jingsi Luo

Frontiers in Genetics

doi 10.3389/fgene.2025.1690693

1,303 views

Case Report

Published on 06 Nov 2025

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features

in Neurogenomics

Li Li
Jie Zhang
Xiaoyan Shi
Yaqing Huang
Xingzhi Chang
Liya Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1699311

1,412 views

Case Report

Published on 14 Oct 2025

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

in Neurogenomics

Qisheng Hu
Feng Zhu
Wanfen Wang
Yihang Xu
Haiyan Ren
Yanni Zheng
Yiqing Jiang
Shaofa Ke

Frontiers in Genetics

doi 10.3389/fgene.2025.1702803

1,775 views

Original Research

Published on 08 Oct 2025

Integrated transcriptomic and single-cell RNA sequencing identifies lysosomal ion channel genes as potential biomarkers for Alzheimer’s disease

in Neurogenomics

Xin Wang
Zelin Wu
Shaoli Wei
Xinran Zhao
Juan Lin
Fang Zhao
Xiaolei Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1676565

2,581 views

Original Research

Published on 29 Aug 2025

Affective phenotypes in heterozygous LRRK2 R1441G knock-in mice

in Neurogenomics

Marcus H. F. Ng
Jimmy W. Y. Lam
Zoe Y. K. Choi
Hui-Fang Liu
Philip W. L. Ho
Benson W. M. Lau
Benjamin K. Yee

Frontiers in Genetics

doi 10.3389/fgene.2025.1629897

3,922 views

Case Report

Published on 14 Aug 2025

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment

in Neurogenomics

Salvatore Savasta
Fabiola Serra
Lucrezia Galimberti
Francesco Fabrizio Comisi
Marcello Cossu
Alessandro Vannelli
Maddalena Masala
Sara Tanca
Stefania Murru

Frontiers in Genetics

doi 10.3389/fgene.2025.1613022

4,120 views
2 citations

Mini Review

Published on 30 Jul 2025

X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome

in Neurogenomics

Kathryn Step
Thiago Peixoto Leal
Walaa A. Kamel
Emily Waldo
Soraya Bardien
Ignacio F. Mata

Frontiers in Genetics

doi 10.3389/fgene.2025.1650259

4,410 views
1 citation

Case Report

Published on 04 Jul 2025

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

in Neurogenomics

Anna Bryzik
Dawid Larysz
Patrycja Larysz
Julia Izabela Karpierz
Justyna Paprocka

Frontiers in Genetics

doi 10.3389/fgene.2025.1622185

3,421 views

Original Research

Published on 18 Jun 2025

Epigenetic mechanisms linking atherosclerosis to ischemic stroke: insights from DNA methylation and transcriptome integration

in Neurogenomics

Binrong Ding
Yiqun Wang
Junfeng Li
Xuewei Zhang
Zhengqing Wan
Hao Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1567951

2,445 views

Original Research

Published on 25 Apr 2025

Correlation of tumor necrosis factor-α and interleukin-1 single-nucleotide polymorphisms with the risk of migraine development

in Neurogenomics

Guijiao Huang
Xin Dong
Xiaojiao Shao
Mengping Wu
Shan Gao
Yixuan Wang
Xinying Guan

Frontiers in Genetics

doi 10.3389/fgene.2025.1556498

1,869 views
2 citations

Case Report

Published on 05 Mar 2025

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

in Neurogenomics

Wentao Dong
Bingliang Zeng
Xiaolian Wang
Rui Zhang
Pei Huang
Bing Fan
Min Yuan
Zicong Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1551832

2,154 views

Correction

Published on 27 Jan 2025

Corrigendum: Codon usage is influenced by compositional constraints in genes associated with dementia

in Neurogenomics

Taha Alqahtani
Rekha Khandia
Nidhi Puranik
Ali M. Alqahtani
Yahia Alghazwani
Saad Ali Alshehri
Kumarappan Chidambaram
Mohammad Amjad Kamal

Frontiers in Genetics

doi 10.3389/fgene.2025.1556255

1,515 views

Case Report

Published on 17 Jan 2025

Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child

in Neurogenomics

Dandan Shi
Nannan Li
Caifang Fan
Qiang Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1508922

2,700 views

Case Report

Published on 07 Jan 2025

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

in Neurogenomics

Menglin Tan
Huiyi Huo
Jieming Feng
Chandi Wang
Suhua Jiang

Frontiers in Genetics

doi 10.3389/fgene.2024.1522203

2,892 views

Editorial

Published on 10 Dec 2024

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

in Neurogenomics

Robert Friedman
Yasin Mamatjan
Cuiping Pan
Patrícia Pelufo Silveira
Margarita Zachariou

Frontiers in Genetics

doi 10.3389/fgene.2024.1520148

2,042 views

Editorial

Published on 29 Oct 2024

Editorial: Epigenetic modification in neurological diseases

in Neurogenomics

Mojgan Rastegar

Frontiers in Genetics

doi 10.3389/fgene.2024.1506551

1,890 views
1 citation

235 articles

articles

G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis

Identification of a novel CLCN2 homozygous variant in a man with leukoencephalopathy and infertility: Case report and literature review

Case Report: Recurrent Stroke-Like Episodes Triggered by High-Altitude Exposure in X-Linked Charcot-Marie-Tooth Disease

RNA networks of lysosomal-related biomarkers in Parkinson’s disease and their correlations with freezing of gait-associated genes

Rethinking Parkinson’s disease genetics in the precision medicine era: why genomic diversity matters?

Correction: Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

Neuronal intranuclear inclusion disease presenting with recurrent dizziness and headache: a case report with 5-year follow-up

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein–Taybi syndrome type 2 in Chinese patients

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

Integrated transcriptomic and single-cell RNA sequencing identifies lysosomal ion channel genes as potential biomarkers for Alzheimer’s disease

Affective phenotypes in heterozygous LRRK2 R1441G knock-in mice

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment

X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

Epigenetic mechanisms linking atherosclerosis to ischemic stroke: insights from DNA methylation and transcriptome integration

Correlation of tumor necrosis factor-α and interleukin-1 single-nucleotide polymorphisms with the risk of migraine development

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

Corrigendum: Codon usage is influenced by compositional constraints in genes associated with dementia

Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

Editorial: Epigenetic modification in neurological diseases