Frontiers in Genetics | Neurogenomics

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

321 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

376 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

838 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

1,030 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

1,419 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

2,104 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

3,498 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

3,353 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

3,872 views

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

3,070 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

2,053 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

1,629 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

1,906 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

1,338 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

2,429 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

2,622 views