Pediatric Neurology and Genetics
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".
Deadline for manuscript submissions: 25 May 2026 | Viewed by 842
Special Issue Editors
Interests: neurodevelopmental disorders; dysmorphology; genetics; genotype–phenotype correlations
Interests: human genetics; neurogenetics; medical genetics; autism spectrum disorders; neurology; neuroscience; ADHD
Special Issue Information
Dear Colleagues,
The burden of rare diseases largely falls on children, impacting healthcare services and shaping their developmental trajectories. In children, neurological disorders comprise a substantial share of such diseases.
Both congenital and progressive or acquired neurological conditions (e.g., syndromic conditions, neurodegeneration, epilepsy, tumors) may have a genetic origin. Although diagnosis is often challenging, recent advances in genetic diagnostic techniques have significantly lowered the diagnostic threshold, facilitating better prediction of prognosis and treatment management. Furthermore, identifying a genetic etiology contributes to an expanded understanding of the biological pathomechanisms of diseases and facilitates the targeting of precise therapeutic strategies.
Integrating cytogenetic and sequencing techniques (e.g., standard karyotype, FISH, SNP/array-CGH, optical genome mapping, whole-exome sequencing, whole-genome sequencing) reveals structural, numerical, and genomic mutations, enabling a comprehensive genomic analysis. Regulatory elements also warrant attention, as they influence gene expression and modulation. Bioinformatic analysis can assist with the interpretation of the extensive data generated via the genetic analysis and predicting the ways in which genomic imbalances and mutations will affect the phenotype.
We are seeking submissions of original research or review articles related to "Pediatric Neurology and Genetics". All types of research related to the genetic landscape of neurological diseases in children will be considered. We look forward to receiving your contributions.
Dr. Roberta Milone
Dr. Agatino Battaglia
Dr. Alberto Danieli
Guest Editors
Manuscript Submission Information
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 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
- rare neurological diseases
- genomics
- next-generation sequencing
- cytogenetics
- child neurology
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