ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2014
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 52 citations in OpenAlex.
- From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.Human genetics · 2026Article
- The Anticonvulsant Effects of Different Cannabis Extracts in a Zebrafish Model of Epilepsy.Biomolecules · 2025Article
- Global trends and burden of idiopathic epilepsy: regional and gender differences from 1990 to 2021 and future outlook.Journal of health, population, and nutrition · 2025Article
- Article
- Nanotechnology-based Nose-to-brain Delivery in Epilepsy: A NovelApproach to Diagnosis and Treatment.Pharmaceutical nanotechnology · 2024Review
- Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy.Acta epileptologica · 2023Review
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Rodent Models of Audiogenic Epilepsy: Genetic Aspects, Advantages, Current Problems and Perspectives.Biomedicines · 2022Review
- Sodium channelopathies of skeletal muscle and brain.Physiological reviews · 2021Review
- Mechanisms of microRNA‑142 in mitochondrial autophagy and hippocampal damage in a rat model of epilepsy.International journal of molecular medicine · 2021Article
- Analysis of gene variants in the GASH/Sal model of epilepsy.PloS one · 2020Article
- Modeling cortical spreading depression induced by the hyperactivity of interneurons.Journal of computational neuroscience · 2019Article
- NaScientific reports · 2019Article
- Epilepsy Disease and Nose-to-Brain Delivery of Polymeric Nanoparticles: An Overview.Pharmaceutics · 2019Review
- Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research.Frontiers in cellular neuroscience · 2019Article
- HDAC4 gene silencing alleviates epilepsy by inhibition of GABA in a rat model.Neuropsychiatric disease and treatment · 2019Article
- Epilepsy and migraine-Are they comorbidity?Genes & diseases · 2018Review
- Gain of Function for theFrontiers in molecular neuroscience · 2018Article
- p53-Sensitive Epileptic Behavior and Inflammation inFrontiers in genetics · 2018Article
- Animal Models of Seizures and Epilepsy: Past, Present, and Future Role for the Discovery of Antiseizure Drugs.Neurochemical research · 2017Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Research in genetics of epilepsy represents an area of great interest both for clinical purposes and for understanding the basic mechanisms of epilepsy. Most mutations in epilepsies without structural brain abnormalities have been identified in ion channel genes, but an increasing number of genes involved in a diversity of functional and developmental processes are being recognized through whole exome or genome sequencing. Targeted molecular diagnosis is now available for different forms of epilepsy. The identification of epileptogenic mutations in patients before epilepsy onset and the possibility of developing therapeutic strategies tested in experimental models may facilitate experimental approaches that prevent epilepsy or decrease its severity. Functional analysis is essential for better understanding pathogenic mechanisms and gene interactions. In vitro experimental systems are either cells that usually do not express the protein of interest or neurons in primary cultures. In vivo/ex vivo systems are organisms or preparations obtained from them (e.g., brain slices), which should better model the complexity of brain circuits and actual pathophysiological conditions. Neurons differentiated from induced pluripotent stem cells generated from the skin fibroblasts of patients have recently allowed the study of mutations in human neurons having the genetic background of a given patient. However, there is remarkable complexity underlying epileptogenesis in the clinical dimension, as reflected by the fact that experimental models have not provided yet results having clinical translation and that, with a few exceptions concerning rare conditions, no new curative treatment has emerged from any genetic finding in epilepsy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.