New Insight into the Molecular Genetics of Neurodevelopmental Disorders
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".
Deadline for manuscript submissions: 31 March 2025 | Viewed by 3621
Special Issue Editors
Interests: neurodevelopment disorders (NDDs) and epilepsy; next-generation sequencing (NGS); medical genetics; molecular genetics; functional genomics
Special Issue Information
Dear Colleagues,
Neurodevelopmental disorders (NDDs) are a group of rare diseases mainly of genetic origin, resulting from abnormal brain development and characterized by impaired cognition, communication, adaptive functioning deficits, and impaired psychomotor skills. NDDs which include rare genetic syndromes, intellectual disability (ID), autism spectrum disorder (ASD) and epilepsy, have proven to be genetically and phenotypically heterogeneous raising unexpected difficulties to the phenotype-driven approach to diagnosis. The advances in genetic testing achieved through Next Generation Sequencing (NGS) have shown an enormous improvement in discovering genes associated with NDDs. However, interpreting the pathogenetic role of variants of unknown significance requires rigorous evaluation of multiple lines of evidence, including the functional effect of the variants at the protein, cellular, or model organism levels. With a better understanding of the molecular pathomechanisms and phenotypic spectra, patient management can be improved and targeted therapeutics may become more available.
This Special Issue aims to provide updates on New Insight into the Molecular Genetics of Neurodevelopmental Disorders.
We welcome Research Articles, Reviews, and Communications focused on the issue topic, including molecular, functional or animal studies modelling specific disorders and deep genotype-phenotype correlation. We look forward to your valuable contributions.
Dr. Luciana Musante
Dr. Flavio Faletra
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 100 words) can be sent to the Editorial Office for announcement on this website.
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Keywords
- neurodevelopmental disorders
- next generation sequencing
- pathomechanisms
- phenotypic spectra
- phenotype-genotype correlation
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Planned Papers
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: FASD and more specifically on miRNA expression modifications (buccal cells and blood samples)
Authors: Laëtitia Sennsfelder
Affiliation: Laboratoire EPI (Etudes pharmaco-immunologiques), UFR Santé, Université de La Réunion, CHU (Centre Hospitalier Universitaire) de La Réunion, 97400 Saint-Denis, France
Title: immune dysregulation in Roifman Syndrome
Authors: Chaim Roifman
Affiliation: Division of Immunology & Allergy, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada.
Title: DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHIES: PATHOGENESIS OF MENTAL RETARDATION BEYOND CHANELLOPATHIES
Authors: Victor Tarabykin
Affiliation: Charité – Universitätsmedizin Berlin
