About this Research Topic

Manuscript Submission Deadline 16 November 2022

Epilepsy syndromes (ES) are a group of epileptic disorders, in which specific seizure onset, electroencephalogram (EEG), and imaging features tend to occur in the same patient. An epilepsy syndrome is usually age-dependent (such as the age of seizure onset and remission), inducible, variable with circadian rhythms, etc. Besides epilepsy, an epilepsy syndrome is often comorbid with cognitive impairment and psychiatric abnormality, accompanied by unique EEG and imaging features. These pharmacoresistant epilepsy syndromes result from genetic mutations, most likely contributed by multiple gene mutations. Although these epilepsy syndromes can be diagnosed by specific clinical features, the pathophysiological mechanisms associated with gene mutations are incompletely understood, and the clinical management of these disorders is not satisfactory. The prognosis of most epilepsy syndromes is poor, severely affecting the health of patients and rendering a heavy health burden for both the family and society.

In this Research Topic, we will explore and discuss the pathophysiological mechanisms associated with the gene mutations in the epilepsy syndromes, including but not limited to: Dravet syndrome, GEFS+ (genetic epilepsy with febrile seizures plus) syndrome and Lennox-Gastaut syndrome. We will also explore the applications of some novel therapeutic strategies to the management of these epilepsy syndromes.

In this Research Topic, we will invite submission of multiple types of articles in both basic and clinical aspects, including Original Research, Brief Communication, Case Report, Method and Approach, Review, Mini-Review, Retrospective, and Meta-analysis.

The scope of the submission includes but is not limited to

• The pathophysiological mechanisms associated with gene mutations implicated in epilepsy syndromes in both animal and clinical studies, e.g., molecular mechanisms, signaling pathways, etc.

• The diagnosis and management of epilepsy syndromes, e.g., new gene diagnosis methods, novel therapeutic strategies (new antiseizure medications or polytherapy or applications of neuromodulation techniques, including VNS, DBS, and TMS), case reports on rare gene mutations, etc.

• Construction of animal models of epilepsy syndromes, phenotype variability depending on genetic backgrounds, animal species, etc.

Keywords: Epilepsy Syndromes, Seizures, Molecular mechanisms, Signaling pathways, Genetics, Treatment


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Epilepsy syndromes (ES) are a group of epileptic disorders, in which specific seizure onset, electroencephalogram (EEG), and imaging features tend to occur in the same patient. An epilepsy syndrome is usually age-dependent (such as the age of seizure onset and remission), inducible, variable with circadian rhythms, etc. Besides epilepsy, an epilepsy syndrome is often comorbid with cognitive impairment and psychiatric abnormality, accompanied by unique EEG and imaging features. These pharmacoresistant epilepsy syndromes result from genetic mutations, most likely contributed by multiple gene mutations. Although these epilepsy syndromes can be diagnosed by specific clinical features, the pathophysiological mechanisms associated with gene mutations are incompletely understood, and the clinical management of these disorders is not satisfactory. The prognosis of most epilepsy syndromes is poor, severely affecting the health of patients and rendering a heavy health burden for both the family and society.

In this Research Topic, we will explore and discuss the pathophysiological mechanisms associated with the gene mutations in the epilepsy syndromes, including but not limited to: Dravet syndrome, GEFS+ (genetic epilepsy with febrile seizures plus) syndrome and Lennox-Gastaut syndrome. We will also explore the applications of some novel therapeutic strategies to the management of these epilepsy syndromes.

In this Research Topic, we will invite submission of multiple types of articles in both basic and clinical aspects, including Original Research, Brief Communication, Case Report, Method and Approach, Review, Mini-Review, Retrospective, and Meta-analysis.

The scope of the submission includes but is not limited to

• The pathophysiological mechanisms associated with gene mutations implicated in epilepsy syndromes in both animal and clinical studies, e.g., molecular mechanisms, signaling pathways, etc.

• The diagnosis and management of epilepsy syndromes, e.g., new gene diagnosis methods, novel therapeutic strategies (new antiseizure medications or polytherapy or applications of neuromodulation techniques, including VNS, DBS, and TMS), case reports on rare gene mutations, etc.

• Construction of animal models of epilepsy syndromes, phenotype variability depending on genetic backgrounds, animal species, etc.

Keywords: Epilepsy Syndromes, Seizures, Molecular mechanisms, Signaling pathways, Genetics, Treatment


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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