The complex landscape of genetic etiologies of epilepsies was largely expanded in the last decades. About 7000 genes with a presumed pathogenic role and more than 150 genes with a known associated clinical phenotype were reported in literature (about 30% of all diagnosed epilepsies). Most of the reported genes encode for ion channel subunits, membrane receptors/transporters, and proteins involved in the transduction of neuronal signaling or enzymes of the intermediate metabolism.
The diagnostic yield of available genetic techniques is generally higher in developmental encephalopathy with epilepsy and in subjects with an onset of seizures under the age of two. The early use of next-generation sequencing tools for the study of patients with epilepsy resulted in economic advantages and cut the prolonged diagnostic pathways of the past decades. These results allowed remarkable progress in the diagnosis and clinical management of patients with epilepsy and epileptic and developmental encephalopathies, and opened interesting perspectives about possible therapies tailored on gene defects.
The goal of this Research Topic is to provide updated data on the management of patients with genetically determined epilepsies, including both clinical and genetic aspects that might have useful applications in the clinical practice, phenotype-genotype correlations taken from clinical observations, or pre-clinical models, and possible new therapies.
The abovementioned data should be collected both for severe epileptic and developmental epileptic encephalopathies and less severe phenotypes, including focal epilepsies with known genetic etiologies. The authors should also provide a complete real-world panorama about the role that genetic studies have achieved in the last years and about the future perspectives.
This Research Topic welcomes articles in the form of Reviews, Original Articles, or Brief Research Reports on, but not limited to:
• Single-gene disorders presenting with epilepsy and neurodevelopmental disorders
• Pathological copy number variants presenting with epilepsy and neurodevelopmental disorders
• Genetic epileptic-dyskinetic disorders
• Treatable inherited metabolic disorders presenting with epilepsy
• The role of next-generation sequencing in the diagnostic work-up of genetically determined epilepsies
• New tailored therapies in the era of precision medicine
• Experimental and animal models of genetically determined epilepsies
The complex landscape of genetic etiologies of epilepsies was largely expanded in the last decades. About 7000 genes with a presumed pathogenic role and more than 150 genes with a known associated clinical phenotype were reported in literature (about 30% of all diagnosed epilepsies). Most of the reported genes encode for ion channel subunits, membrane receptors/transporters, and proteins involved in the transduction of neuronal signaling or enzymes of the intermediate metabolism.
The diagnostic yield of available genetic techniques is generally higher in developmental encephalopathy with epilepsy and in subjects with an onset of seizures under the age of two. The early use of next-generation sequencing tools for the study of patients with epilepsy resulted in economic advantages and cut the prolonged diagnostic pathways of the past decades. These results allowed remarkable progress in the diagnosis and clinical management of patients with epilepsy and epileptic and developmental encephalopathies, and opened interesting perspectives about possible therapies tailored on gene defects.
The goal of this Research Topic is to provide updated data on the management of patients with genetically determined epilepsies, including both clinical and genetic aspects that might have useful applications in the clinical practice, phenotype-genotype correlations taken from clinical observations, or pre-clinical models, and possible new therapies.
The abovementioned data should be collected both for severe epileptic and developmental epileptic encephalopathies and less severe phenotypes, including focal epilepsies with known genetic etiologies. The authors should also provide a complete real-world panorama about the role that genetic studies have achieved in the last years and about the future perspectives.
This Research Topic welcomes articles in the form of Reviews, Original Articles, or Brief Research Reports on, but not limited to:
• Single-gene disorders presenting with epilepsy and neurodevelopmental disorders
• Pathological copy number variants presenting with epilepsy and neurodevelopmental disorders
• Genetic epileptic-dyskinetic disorders
• Treatable inherited metabolic disorders presenting with epilepsy
• The role of next-generation sequencing in the diagnostic work-up of genetically determined epilepsies
• New tailored therapies in the era of precision medicine
• Experimental and animal models of genetically determined epilepsies
