Special Issue "Genetics of Epileptic Encephalopathies: From Gene Discovery to Clinical Diagnosis and Management Implications of Genetic Diagnoses"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 20 December 2021.

Special Issue Editors

Dr. David Dyment
E-Mail Website
Guest Editor
Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
Interests: epilepsy genetics; Dravet syndrome; recognizable malformation syndromes
Dr. Saadet Mercimek-Andrews
E-Mail Website
Guest Editor
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 1H9, Canada
Interests: epilepsy genetics; neurometabolic disorders; neurogenetic disorders

Special Issue Information

Dear Colleagues,

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
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 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

Published Papers (1 paper)

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Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test
Genes 2021, 12(8), 1227; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12081227 - 10 Aug 2021
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Introduction: Childhood epilepsy is one of the most common neurological problems. The transferrin isoelectric focusing (TIEF) test is a screening test for congenital disorders of glycosylation (CDG). We identified abnormal TIEF test in children with epilepsy in our epilepsy genetics clinic. To determine [...] Read more.
Introduction: Childhood epilepsy is one of the most common neurological problems. The transferrin isoelectric focusing (TIEF) test is a screening test for congenital disorders of glycosylation (CDG). We identified abnormal TIEF test in children with epilepsy in our epilepsy genetics clinic. To determine if an abnormal TIEF test is associated with anti-epileptic medications or abnormal liver functions, we performed a retrospective cohort study. Methods: This study was performed between January 2012 and March 2020. Electronic patient charts were reviewed. Standard non-parametric statistical tests were applied using R statistical software. Fischer’s exact test was used for comparisons. Results: There were 206 patients. The TIEF test was abnormal in 11% (23 out of 206) of the patients. Nine patients were diagnosed with CDG: PMM2-CDG (n = 5), ALG3-CDG (n = 1), ALG11-CDG (n = 2), SLC35A2-CDG (n = 1). We report 51 different genetic diseases in 84 patients. Two groups, (1) abnormal TIEF test; (2) normal TIEF test, showed statistically significant differences for abnormal liver functions and for valproic acid treatment. Conclusion: The TIEF test guided CDG diagnosis in 2.9% of the patients. Due to the high prevalence of CDG (4.4%) in childhood epilepsy, the TIEF test might be included into the diagnostic investigations to allow earlier and cost-effective diagnosis. Full article
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