Genetics of Rett Syndrome and Rett-Like Phenotypes: From Gene Discovery to Management and Treatment
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 3004
Special Issue Editors
Interests: neurodevelopmental disorders; intellectual disability; Rett syndrome; epileptic encephalopathies; autism
Interests: clinical genetics; dysmorphology; neurodevelopment disorders; rare diseases; tuberous sclerosis; Rett syndrome
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Rett syndrome and Rett-like phenotypes are rare neurodevelopmental disorders characterized by the impaired development of the nervous system in addition to epilepsy with various ages of onset, accompanied by a series of variable—and not yet fully understood—systemic manifestations.
Recent advances in genomic medicine, multi-omics approaches and cellular models have been instrumental in discovering new genes associated with Rett and Rett-like phenotypes as well as in exploring the phenotype and the biological mechanisms underlying these disorders, paving the path to potential treatments.
This Special Issue in Genes will focus on the genetic basis of Rett syndrome and recently discovered genes causing Rett-like phenotypes, in addition to a better understanding of the associated phenotypes and potential therapeutic targets for these conditions.
We welcome articles in the form of original research, brief reports and literature reviews that focus on the discovery of genetic variants related to Rett syndrome or Rett-like phenotypes, studies on cellular models, studies that apply multi-omics approaches and research on genotype–phenotype correlations as well as management in patients with Rett and Rett-like phenotypes.
Dr. Aglaia Vignoli
Dr. Angela Peron
Guest Editors
Manuscript Submission Information
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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. Genes 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
- Rett syndrome
- Rett-like phenotypes
- MECP2
- CDKL5
- FOXG1
- exome sequencing
- genome sequencing
- multi-omics approach
- transcriptomics
- metabolomics
- therapeutic target
