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IQSEC2 Mediated Diseases: From Mechanisms to Treatment

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 20 September 2024 | Viewed by 213

Special Issue Editor


E-Mail Website
Guest Editor
Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel
Interests: epilepsy; diabetes related complications; autism; intellectual disability; drug resistant

Special Issue Information

Dear Colleagues,

Mutations in the IQSEC2 gene account for up to 5% of all children with neurodevelopmental delay associated with epilepsy and autism. The scope and focus of this issue is to present a series of papers covering the mechanism of IQSEC2 in health and disease and potential translational applications of new insights into IQSEC2 function. The issue will be for pediatricians, neurologists, and neuroscientists. It will serve as a reference for anyone interested in IQSEC2 disease covering the spectrum from mechanism to treatment. Papers which will be welcome will include large clinical series and experience with pharmacogenomics of the response to antiseizure medications, modeling IQSEC2 disease in multiple organisms (frog, zebrafish, and mice), studies with IPSC patient-derived lines, and novel therapies seeking to treat IQSEC2 disease—from small molecules to gene therapy.

Prof. Dr. Andrew P. Levy
Guest Editor

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • IQSEC2
  • epilepsy
  • autism
  • intellectual disability
  • animal model
  • gene therapy
  • pharmacogenomics

Published Papers

This special issue is now open for submission.
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