Frontiers in Neurology | Neurogenetics

Original Research

Published on 04 Feb 2026

Identification of novel FOXP1 variants in four unrelated patients with intellectual disability and speech impairment

in Neurogenetics

Jingjing Xiang
Jun Mao
Qin Zhang
Qingxia Meng

Frontiers in Neurology

doi 10.3389/fneur.2026.1743089

129 views

General Commentary

Accepted on 29 Jan 2026

Before stroke-like episodes are diagnosed, their definition should be clarified

in Neurogenetics

Josef Finsterer

Frontiers in Neurology

Original Research

Published on 28 Jan 2026

KCNB1 mutation impairs neuronal differentiation by disrupting gene expression temporal regulation and neuron-specific pathways

in Neurogenetics

Yufan Guo
Lifang Wu
Danfeng Ye
Xueting Lin
Yuting Jin
Chudi Zhang
Yuting Lou
Pu Miao
Ye Wang
Bijun Zhang

Frontiers in Neurology

doi 10.3389/fneur.2026.1739214

415 views

Review

Accepted on 26 Jan 2026

Research Progress in SYNGAP1-related neurodevelopmental disorders: From Pathogenesis to Therapeutic Strategies

in Neurogenetics

Jia Zhang
Gong xue
Xiaoqian Wang
Xueyi Rao
Jun Chen
Fan Lijuan
Liqin Liu
Jing Gan

Frontiers in Neurology

162 views

Review

Published on 20 Jan 2026

Disease-modifying therapies for Rett syndrome: a review for neurologists

in Neurogenetics

Debopam Samanta

Frontiers in Neurology

doi 10.3389/fneur.2026.1766679

928 views

Original Research

Accepted on 16 Jan 2026

Toward Precision Medicine in SCN3A Variants-Associated Encephalopathies and Epilepsy: Optimizing Genetic Diagnosis and Molecular Subregional Effects

in Neurogenetics

Peng-Yu Wang
Jia-Xing Zhao
Wenhui Liu
Chen Yongjun
Hongwei Wang

Frontiers in Neurology

187 views

Original Research

Accepted on 15 Jan 2026

Unmasking Genetic Etiologies in Neurodevelopmental Disorders Characterized by Cerebral Palsy: Insights from Integrative Genomic Approaches

in Neurogenetics

Ayca Yigit
Ozlem Akgun-Dogan
Zeynep Ozkeserli
Günseli Bayram Akçapınar
Semih Ayta
Pınar Gencpinar
Hülya Maraş Genç
Busra Kutlubay
Bülent Kara
Hatice Gulhan Sozen

Frontiers in Neurology

248 views

Original Research

Published on 06 Jan 2026

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study

in Neurogenetics

Jian Zha
Ying Yu
Fangfang Cao
Zhaoshi Yi
Huaping Wu
Yong Chen
Jianmin Zhong
Xiongying Yu

Frontiers in Neurology

doi 10.3389/fneur.2025.1728652

662 views

Brief Research Report

Accepted on 05 Jan 2026

Recurrent Migraine with Visual Aura as the Primary Phenotype of Familial Neuronal Intranuclear Inclusion Disease

in Neurogenetics

Qingxiang Zhang
Gao Min
Yue-Shan Piao
Sufen Huang
Haitian Nan
Zhen Wang
Junjie Li

Frontiers in Neurology

152 views

Review

Published on 01 Dec 2025

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations

in Neurogenetics

Rong Wu
Xingguang Luo
Xiao-Ping Wang

Frontiers in Neurology

doi 10.3389/fneur.2025.1695128

1,133 views

Brief Research Report

Accepted on 27 Nov 2025

Renpenning Syndrome Caused by c.459_462delAGAG Mutation of polyglutamine-bingding protein 1 and review of the literature

in Neurogenetics

Mengting Zhang
Guoshun Mao
Mengli Liu
Rongrong Wang
Fuxiang Ma

Frontiers in Neurology

237 views

Brief Research Report

Published on 27 Nov 2025

Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease

in Neurogenetics

Mengyao Kou
Bin Ren
Mengnan Xing
Lijuan Chen
Xiangping Xu

Frontiers in Neurology

doi 10.3389/fneur.2025.1680208

800 views

Original Research

Published on 26 Nov 2025

Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms

in Neurogenetics

Yu-Jie Gu
Peng-Yu Wang
Qing-Qing Fu
Jia-He Lai
Xin Chen
Xiang-Hong Liu
Bao-Zhu Guan

Frontiers in Neurology

doi 10.3389/fneur.2025.1729387

1,204 views

Correction

Published on 10 Nov 2025

Correction: Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study

in Neurogenetics

Qiuyu Wei
Shaoyong Yu
Yi Luo
Xinghui Song
Pin Qin
Rongji Li
Weichao Sun
Jin Wang
Gang Wu

Frontiers in Neurology

doi 10.3389/fneur.2025.1726757

681 views

Systematic Review

Published on 06 Nov 2025

Accelerated biological aging based on DNA methylation clocks is a predictor of stroke occurrence: a systematic review and meta-analysis

in Neurogenetics

Jiacai Feng
Xingyu Huang
Rongqing Wu
Guohui Ding
Ming Liu
Renli Deng

Frontiers in Neurology

doi 10.3389/fneur.2025.1640853

1,891 views

Original Research

Published on 31 Oct 2025

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

in Neurogenetics

Justin Simo
Heather M. Lugar
Elka Miller
Adi Wilf-Yarkoni
Yael Goldberg
Ayça Kocaağa
Shoichi Ito
Sirio Cocozza
Giulio Frontino
Cristina Baldoli

Frontiers in Neurology

doi 10.3389/fneur.2025.1623314

2,413 views

Editorial

Published on 21 Oct 2025

Editorial: Genetic insights and diagnostic innovations in cerebrovascular and cerebrospinal fluid disorders

in Neurogenetics

Ling Li
Haipeng Liu
Linfang Lan
Hao Yu

Frontiers in Neurology

doi 10.3389/fneur.2025.1691759

1,746 views

Original Research

Published on 15 Oct 2025

The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing

in Neurogenetics

Yukun Du
Tianyu Bai
Jie Song
Li Zhang
Hui Huang
Peng Han
Fangfang Gai
Jianwei Guo
Jianyi Li
Changlin Lv

Frontiers in Neurology

doi 10.3389/fneur.2025.1641665

2,578 views

Original Research

Published on 15 Oct 2025

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)

in Neurogenetics

Ruohao Wu
Xiangyang Luo
Zhe Meng
Wenting Tang
Liyang Liang

Frontiers in Neurology

doi 10.3389/fneur.2025.1574021

1,324 views

Original Research

Published on 09 Oct 2025

Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study

in Neurogenetics

Qiuyu Wei
Shaoyong Yu
Yi Luo
Xinghui Song
Pin Qin
Rongji Li
Weichao Sun
Jin Wang
Gang Wu

Frontiers in Neurology

doi 10.3389/fneur.2025.1575941

2,346 views

Review

Published on 02 Oct 2025

Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders

in Neurogenetics

Ziming Xu
Yan Xu
Xiaoyou Tao
Chen Chen
Guojuan Dong

Frontiers in Neurology

doi 10.3389/fneur.2025.1664776

2,815 views

Review

Published on 22 Sep 2025

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease

in Neurogenetics

Omar Shennib
Olivia Raines
Amanda Sandoval Karamian
Megan E. Williams

Frontiers in Neurology

doi 10.3389/fneur.2025.1662931

2,874 views
2 citations

Review

Published on 12 Sep 2025

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL

in Neurogenetics

Yuehui Wang
Yiran Liu
Hongbin Mo
Yue Han
Yuanyuan Jing
Fang Deng

Frontiers in Neurology

doi 10.3389/fneur.2025.1662012

3,875 views

Original Research

Published on 10 Sep 2025

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization

in Neurogenetics

Shanshan Wei
Zhe Zhao
Nan Li
Xuan Guo
Jiannan Chen
Jing Hu

Frontiers in Neurology

doi 10.3389/fneur.2025.1661707

3,027 views

345 articles

articles

Identification of novel FOXP1 variants in four unrelated patients with intellectual disability and speech impairment

Before stroke-like episodes are diagnosed, their definition should be clarified

KCNB1 mutation impairs neuronal differentiation by disrupting gene expression temporal regulation and neuron-specific pathways

Research Progress in SYNGAP1-related neurodevelopmental disorders: From Pathogenesis to Therapeutic Strategies

Disease-modifying therapies for Rett syndrome: a review for neurologists

Toward Precision Medicine in SCN3A Variants-Associated Encephalopathies and Epilepsy: Optimizing Genetic Diagnosis and Molecular Subregional Effects

Unmasking Genetic Etiologies in Neurodevelopmental Disorders Characterized by Cerebral Palsy: Insights from Integrative Genomic Approaches

LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study

Recurrent Migraine with Visual Aura as the Primary Phenotype of Familial Neuronal Intranuclear Inclusion Disease

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations

Renpenning Syndrome Caused by c.459_462delAGAG Mutation of polyglutamine-bingding protein 1 and review of the literature

Retropseudogene insertion generated through retrotransposition in the ATP7A gene results in premature stop codons and a case of Menkes disease

Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms

Correction: Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study

Accelerated biological aging based on DNA methylation clocks is a predictor of stroke occurrence: a systematic review and meta-analysis

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

Editorial: Genetic insights and diagnostic innovations in cerebrovascular and cerebrospinal fluid disorders

The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)

Exploring the causal relationship between plasma proteins and postherpetic neuralgia: a Mendelian randomization study

Clinical characteristics, molecular mechanisms, and exploration of association with gastrointestinal symptoms in CHAMP1 gene variation-related neurodevelopmental disorders

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization