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Genetic Basis and Molecular Mechanism of Neurodevelopmental Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Nanoscience".

Deadline for manuscript submissions: 25 December 2026 | Viewed by 24

Editor


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Guest Editor
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
Interests: epilepsy; cortical development; genetics; neuronal network formation; neurodevelopmental disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders (NDDs) arise from perturbations of tightly regulated genetic programs governing brain development. From early embryogenesis to postnatal maturation, neuronal networks are shaped through coordinated processes, including progenitor proliferation, neuronal differentiation, migration, axonal and dendritic growth, and synaptogenesis. These events rely on precise molecular signaling and dynamic interactions among neurons and glial cells, which together ensure the establishment and maintenance of functional circuits.

Advances in genomic technologies have significantly expanded our understanding of the genetic basis of NDDs, identifying pathogenic variants across a broad spectrum of genes. These include genes involved in ion channel function, synaptic transmission, cytoskeletal dynamics, vesicular trafficking, and endo-lysosomal homeostasis. Disruption of these pathways leads to diverse but often overlapping phenotypes, such as developmental and epileptic encephalopathies, intellectual disability, autism spectrum disorders, and cortical malformations.

Elucidating the molecular mechanisms linking genetic variation to cellular dysfunction and network-level alterations remains a critical challenge. This Special Issue aims to gather cutting-edge research and comprehensive reviews addressing the genetic architecture and pathogenic mechanisms of NDDs. By integrating insights from molecular biology, cellular models, and systems neuroscience, we seek to advance the understanding of disease mechanisms and foster the development of targeted therapeutic strategies.

Dr. Antonio Falace
Guest Editor

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Keywords

  • neurodevelopmental disorders (NDDs)
  • genetic variants
  • neuronal development
  • synaptic function
  • ion channels
  • intracellular trafficking
  • endo-lysosomal pathway
  • disease mechanisms

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