About this Research Topic
West syndrome is an age specific epilepsy with the onset before 2 years of age. The patients typically present with hypsarrhythmia on electroencephalography, developmental/intellectual impairments or regression, and epileptic spasms. This syndrome is the common phenotype when the expanded epileptogenesis on cerebral cortices with disrupting neuronal network in deep brain structures including deep gray matters, brainstem, and cerebellum occur in young patient. Although hormonal therapy and vigabatrin are established as the treatments for West syndrome, a third of the patients are medically intractable and need neurosurgical treatment, device, and/or dietary therapy. It is critical challenge to know the pathophysiology and to develop new treatment approach in those patients. In recent years, genetic, biochemical, neurophysiological and neuroradiological approaches have developed and disclosed new aspects of pathophysiology in West syndrome. We, herein, recruit the researchers regarding advanced approaches of diagnosis, pathophysiological investigations and treatment for West syndrome.
The goal of this Research Topic is to provide new diagnostic approach, pathophysiological understanding and treatment options, by using advanced methodologies in genetic, biochemical, neurophysiology, neuroradiology. From these studies, the new genetic or biochemical knowledge will be applicable for drug developing from new pharmacological approach. The new knowledge about pathophysiology will improve treatment selection and orders from ACTH/corticosteroid, antiepileptic drugs, neurosurgery, vagus nerve stimulation and dietary therapies. Selecting appropriate surgical options (corpus callosotomy, cortical resection or disconnections), determining resection margins of cortices, and developing new surgical approach or stimulation device to disclose epileptic networks using advanced neurophysiological and neuroradiological approaches will also be discussed.
Original research, case report, narrative review, and systematic review articles are acceptable.
Suggestive researches are:
- New causative genes
- Review of causative genes in previous reports
- Applications of genetic diagnosis in clinical practice
- Genes and the pathophysiology related to development of West syndrome
- Biomarker of West syndrome before onset
- New biochemically treatment approaches
- Pathophysiological analysis using biochemical method
- Biomarker for selecting the treatment options
- Electroencephalogram (EEG) analysis for revealing the epileptic network
- EEG analysis for improving surgical or device treatment
- Magnetoencephalography (MEG) analysis for revealing the epileptic network
- MEG analysis for improving surgical or device treatment
Analyses using advanced magnetic resonance imaging (MRI) technics, functional MRI, advanced or new nuclear brain scanning or combined these methods about:
- New pathophysiological or diagnostic knowledge
- Findings which improve the outcomes of treatment, especially about neurosurgery.
5. Treatment options:
- Novel medical therapies (mechanism specific medication etc.)
- Novel surgical therapies (corpus callosotomy, disconnection, neurostimulation etc.)
Keywords: West syndrome, diagnosis, pathophysiological investigations, treatment, new
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