Genetic Research on Neurological and Developmental Disorders

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.

• brain malformations
• genetics
• neurodevelopmental disorders
• epilepsy
• autism
• genotype-phenotype correlation