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Brain Sciences
Special Issues
Molecular Genetics of Neurodevelopment Disorders
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Molecular Genetics of Neurodevelopment Disorders

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Developmental Neuroscience".

Deadline for manuscript submissions: closed (15 November 2025) | Viewed by 2128

Special Issue Editors

Dr. Constance Smith-Hicks

E-Mail Website
Guest Editor
1. Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA
2. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Interests: synaptic disorders; genotype–phenotype correlations; sleep
Special Issues, Collections and Topics in MDPI journals
Dr. Philip H. Iffland

E-Mail Website
Guest Editor
Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA
Interests: cortial malformations; epilepsy; mTOR; cell signaling

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) represent a wide range of conditions that arise from disturbances in brain development, and they are characterized by impairments in cognitive, motor, adaptive, social, and behavioral function. Disorders within this category are influenced by complex genetic factors, and the rapid advancements in genomics, particularly high-throughput sequencing technologies, have transformed our understanding of the genetic basis of NDDs. Common and rare genetic factors, including chromosomal abnormalities and rare genetic variants, play a significant role in the development of neurodevelopmental conditions. Furthermore, the interaction between genetic predispositions and environmental influences is a key aspect of these disorders, complicating both the phenotypic spectrum and the therapeutic landscape.

This Special Issue seeks original research, case series, and review articles that address the rapidly evolving field of molecular genetics in neurodevelopmental disorders, highlighting the latest advancements in genomic research, the ethics of genetic testing and counseling, gene–environment interactions, and molecular signaling pathways.

Dr. Constance Smith-Hicks
Dr. Philip H. Iffland
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genotype–phenotype correlations
  • epigenetics
  • genome editing
  • translational research
  • neuroethics
  • deep sequencing
  • functional genomics

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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Research

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16 pages, 3702 KB  
Article
γ-Aminobutyric Acid Transporter Mutation GAT1 (S295L) Substantially Impairs Neurogenesis in Dentate Gyrus
by Weitong Liu, Yantian Yang, Yichen Liu, Bingyan Ni, Hua Zhuang, Kexin Chen, Jiahao Shi, Chenxin Zhu, Haoyue Wang and Jian Fei
Brain Sci. 2025, 15(4), 393; https://doi.org/10.3390/brainsci15040393 - 13 Apr 2025
Viewed by 1114
Abstract
Background: GABAergic signaling plays a crucial role in modulating neuronal proliferation, migration, and the formation of neural network connections. The termination of GABA transmission primarily occurs through the action of GABA transporter 1 (GAT1), encoded by the SLC6A1 gene. Multiple SLC6A1 mutations [...] Read more.
Background: GABAergic signaling plays a crucial role in modulating neuronal proliferation, migration, and the formation of neural network connections. The termination of GABA transmission primarily occurs through the action of GABA transporter 1 (GAT1), encoded by the SLC6A1 gene. Multiple SLC6A1 mutations have been implicated in neurodevelopmental disorders, but their effects on the nervous system are unclear. Methods: We estimated the expression pattern of the GAT1 (S295L) protein using the Slc6a1S295L/S295L mouse model via RT-PCR, Western blotting, and confocal immunofluorescence. The effect of GAT1 (S295L) on hippocampal neurogenesis was investigated by neuronal marker staining (Sox2, Tbr2, NeuroD1, DCX, NeuN) and BrdU label experiments. The dendritic complexity was mapped through Sholl analysis. RNA-Seq was utilized to explore the signaling pathways and molecules associated with neurodevelopmental disorders. Results: We detected a remarkable decline in the quantity of type-2b intermediate progenitor cells, neuroblasts, and immature neurons in the dentate gyrus (DG) of Slc6a1S295L/S295L mice at 4 weeks. These abnormalities were exacerbated in adulthood, as evidenced by compromised dendritic length and height as well as the complexity of immature neurons. Immunofluorescence staining showed the abnormal aggregation of GAT1 (S295L) protein in neurons. RNA-seq analysis identified pathways associated with neurodevelopment, neurological disorders, protein homeostasis, and neuronutrition. The neurotrophin Bdnf decreased at all ages in the Slc6a1S295L/S295L mice. Conclusions: Our data provide new evidence that GAT1 (S295L) causes impaired neurogenesis in the DG. GAT1 mutation not only disrupts GABA homeostasis but also impairs the neurotrophic support necessary for normal hippocampal development, which may be one of the factors contributing to impaired neurogenesis. Full article
(This article belongs to the Special Issue Molecular Genetics of Neurodevelopment Disorders)
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Review

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14 pages, 241 KB  
Review
Hippocampal Development and Epilepsy: Insights from Organoid Models
by Jin Joo, Woo Sub Yang and Hyun Jung Koh
Brain Sci. 2025, 15(11), 1231; https://doi.org/10.3390/brainsci15111231 - 16 Nov 2025
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Abstract
The hippocampus is a crucial component of the human brain. It is located on the medial side of the temporal lobe and is connected to the limbic system, influencing memory and cognitive function. The critical functions of the hippocampus have a profound impact [...] Read more.
The hippocampus is a crucial component of the human brain. It is located on the medial side of the temporal lobe and is connected to the limbic system, influencing memory and cognitive function. The critical functions of the hippocampus have a profound impact on an individual’s overall ability to maintain daily life functioning. In adults, hippocampal damage impairs cognitive functions, including memory, learning, and emotional regulation. It is associated with conditions such as memory impairment, Alzheimer’s disease, various forms of dementia, depression, and stress-related disorders. Damage to the developing hippocampus can have broad and profound, leading to deficits in memory development, language acquisition, and behavioral and emotional regulation, thereby impairing the individual’s ability to maintain normal daily functioning. One of the major factors affecting hippocampal development is epilepsy. Therefore, identifying the mechanism underlying epilepsy-induced hippocampal damage and developing therapeutic strategies to reduce or prevent epileptic events that significantly impair hippocampal maturation are of critical importance. Numerous studies have been conducted in this regard, and given the challenges of directly studying the human brain, organoid-based research approaches have gained increasing attention and widespread application. In particular, hippocampal organoids have emerged as valuable models for investigating various hippocampal functions; however, definitive findings have yet to be established. Therefore, elucidating the structural characteristics and underlying mechanisms of epilepsy using hippocampal organoids, and exploring potential strategies to mitigate its effects remains an important direction for future research. Full article
(This article belongs to the Special Issue Molecular Genetics of Neurodevelopment Disorders)
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