Genetics and Mechanisms of Neurodevelopmental Disorders

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ORIGINAL RESEARCH

Published on 06 Aug 2025

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures

Jing Chen
Wei Su
Dan Gao
Fangfang Liu
Shuang Chen
Wenhan Zhang
Min Peng
Tao Lei
Hongmin Zhu

doi 10.3389/fgene.2025.1591551

615 views

ORIGINAL RESEARCH

Published on 07 Jul 2025

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review

Liqing Jiang
Jiaqi Li
Aizhong Han
Fei Hou
Xiaotong Wei
Yanjun Tian

doi 10.3389/fgene.2025.1616005

968 views

ORIGINAL RESEARCH

Published on 03 Jul 2025

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden

Elena D. Bagatelas
Maahin Manzoor Khan
Gabrielle V. Rushing

doi 10.3389/fnhum.2025.1589897

1,893 views

CASE REPORT

Published on 19 Jun 2025

Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1

V. Napoli
S. Guerrera
F. Demaria
G. Piccolo
A. Cianfa
S. Passarini
M. G. Logrieco
G. Zanni
G. Valeri
S. Vicari

doi 10.3389/fped.2025.1617479

1,345 views

MINI REVIEW

Published on 28 Jan 2025

Clinical characteristics, diagnosis, treatment, and prognosis of Atezolizumab-induced encephalitis, aseptic meningitis or meningoencephalitis

Qingzi Yan
Yixiang Hu
Xiang Liu
Hong Xia

doi 10.3389/fnhum.2025.1443463

1,165 views

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Frontiers in Human Neuroscience

Frontiers in Human Neuroscience

Brain Health and Clinical Neuroscience

Participating Journals

Frontiers in Genetics
- Genetics of Common and Rare Diseases
- 2.8 impact factor
- 6.2 citescore
Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
- 2.0 impact factor
- 4.3 citescore

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