Special Issue "Genetics of Epileptic Encephalopathies: From Gene Discovery to Clinical Diagnosis and Management Implications of Genetic Diagnoses"
Deadline for manuscript submissions: 20 December 2021.
Interests: epilepsy genetics; Dravet syndrome; recognizable malformation syndromes
Background: Epilepsy is a common neurological disorder in the general population. Epileptic encephalopathy is characterized by cognitive dysfunction associated with ongoing epileptiform activity and refractory seizures. Application of exome and genome sequencing in the research setting has in the last ten years led to the discovery of novel genetic epilepsies. Epileptic encephalopathy is heterogenous, and there are likely more than 1000 genetic disorders associated with it. In recent years, next generation sequencing technologies such as targeted panels and exome sequencing have increased the genetic diagnosis in patients with epilepsy in neurology and genetic clinics. Molecular genetic diagnoses and the type of underlying genetic disease (e.g., SCN1A, SCN2A, and KCNQ2 associated epilepsies or some of the inherited metabolic disorders) can guide physicians in the management of epilepsy.
Scope: This Special Issue in Genes will focus on the genetic basis of epileptic encephalopathies, recently discovered genetic epilepsies, and treatable inherited metabolic disorders.
What kind of papers we are looking for: In this Special Issue of Genes, we extend an invitation for reviews on the current state of genetics in epileptic encephalopathies, as well as original research articles that focus on the discovery of genetic variations or mutations that could be used to distinguish clinically relevant disease or predict therapeutic efficacies and outcomes. We look forward to your contributions and encourage you to send an abstract of your proposed manuscript to the Guest Editors (Drs. Andrews and Dyment) for assessment of their suitability in this Special issue.
Dr. David Dyment
Dr. Saadet Mercimek-Andrews
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 papers will be 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. 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 2000 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.
- epileptic encephalopathy
- genetic epilepsies
- inherited metabolic disorders
- exome sequencing
- genome sequencing