Genetic Research on Neurological and Developmental Disorders
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".
Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 299
Special Issue Editors
2. Department of Human Genetics, McGill University, Montreal, QC, Canada
Interests: neurogenetics; pediatric neurology; exome and genome sequencing; gene discovery; brain maformations; genotype and phenotype correlation
Special Issues, Collections and Topics in MDPI journals
2. Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK
Interests: neurogenetics; pediatric neurology; exome and genome sequencing; gene discovery; autism; neurodevelopmental disorders; genotype and phenotype correlation
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Brain development relies on the exquisitely timed coordination of cell proliferation, differentiation, migration and organization. The disruption of this process, either by genetic or environmental processes, can cause impairment of cerebral development and lead to a wide range of neurodevelopmental issues, such as intellectual disability, brain malformations, autism and epilepsy.
In recent decades, the genetic basis for many of these disorders has been unveiled, improving genetic counselling, providing pathophysiological insights, and aiding the development of specific treatments. However, clinical outcomes and genetic bases remain very heterogeneous among neurodevelopmental disorders presenting with brain malformations. Furthermore, many disorders remain poorly characterized, and genotype-phenotype correlations are challenging to identify.
The overall goals of this research topic are:
- To provide an overview of the clinical and pathophysiologic characterization of different types of brain malformations, such as malformations of cortical development, midline defects (e.g., of corpus callosum and brainstem) and malformations of the posterior fossa;
- An update of genetic bases;
- An update of the recent understanding of the pathophysiologic basis;
- The correlation of genetic findings with clinical outcomes;
- The optimization of treatments.
The specific scope of this Special Issue will include:
- The expansion of phenotypes;
- The clinical and genetic characterization of cohorts;
- Genotype–phenotype correlations;
- Neurophysiology;
- Studies that provide insight into underlying pathophysiology;
- The functional characterization of novel variants.
We welcome submissions of original research and review articles.
Dr. Andrea Accogli
Dr. Vincenzo Salpietro
Dr. Myriam Srour
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.
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. Biomedicines 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 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
- brain malformations
- genetics
- neurodevelopmental disorders
- epilepsy
- autism
- genotype-phenotype correlation
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.
