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Unraveling the Genetic Background of Neurological Disorders: 2nd Edition

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 2025 | Viewed by 951

Special Issue Editors


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Guest Editor

Special Issue Information

Dear Colleagues,

We are excited to announce the 2nd edition of our Special Issue, “Unraveling the Genetic Background of Neurological Disorders”. The successful first edition of this thematic Special Issue showcased a range of interesting contributions and discussions (https://www.mdpi.com/journal/ijms/special_issues/Genetic_Neurological).

Neurogenetics had a great progress in recent years, especially due to the advancement of techniques of molecular genetics. Today, neurogenetics confer not only to the level of research and diagnosis, but also at therapeutic level. Therefore, ongoing research on neurogenetics is of great importance, as it can contribute to the investigation of personalized treatments and therapies that will benefit patients affected by neurological disorders.  

This Special Issue aims to cover the newest advancements in the field of neurogenetics. All article types are welcome, and Authors are invited to contribute original studies (e.g., candidate gene-association studies, genome-wide association studies, genetic linkage studies), reviews, systematic reviews, communication, and related case reports, etc. regarding the genetics of neurological disorders.

Dr. Vasileios Siokas
Dr. Efthimios Dardiotis
Dr. Ioannis Liampas
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. 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

  • neurological disorders
  • neurogenetics
  • personalized treatments
  • gene-association studies
  • genetics
  • genome-wide association studies
  • genetic linkage studies

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Published Papers (1 paper)

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Research

19 pages, 2080 KiB  
Article
Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing
by Ji Yoon Han, Jin Gwack, Jong Hun Kim, Min Kyu Park and Joonhong Park
Int. J. Mol. Sci. 2025, 26(7), 2929; https://doi.org/10.3390/ijms26072929 - 24 Mar 2025
Viewed by 486
Abstract
This study investigated the genetic causes of atypical cerebral palsy (CP) through chromosomal microarray (CMA) and exome sequencing (ES) in a cohort of 10 Korean patients to identify variants and expand the spectrum of mutations associated with atypical cerebral palsy. Whole ES and/or [...] Read more.
This study investigated the genetic causes of atypical cerebral palsy (CP) through chromosomal microarray (CMA) and exome sequencing (ES) in a cohort of 10 Korean patients to identify variants and expand the spectrum of mutations associated with atypical cerebral palsy. Whole ES and/or genome sequencing (GS) after routine karyotyping and CMA was performed to identify causative variants and expand the spectrum of mutations associated with atypical CP. In cases of atypical CP, scoliosis and/or kyphosis, ranging from mild to severe, were present in all patients. Epilepsy was a comorbidity in seven patients (70%), and intellectual disability (ID) was observed in varying degrees. This study identified three copy number variations (CNVs), including 15q11.2 microdeletion (n = 1), 17p11.2 duplication (n = 1), and 12p13.33p11.23 duplication/18p11.32 microdeletion (n = 1), and six likely pathogenic variants (LPVs) or pathogenic variants (PVs) detected in the SLC2A1, PLAA, CDC42BPB, CACNA1D, ALG12, and SACS genes (n = 6). These findings emphasize the significance of incorporating genetic testing into the diagnostic process for atypical CP to improve our understanding of its molecular basis and inform personalized treatment strategies. To further advance this research, future studies should focus on exploring genotype–phenotype correlations, assessing the functional impact of identified variants, and increasing the sample size to validate the observed patterns. Full article
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