Early childhood epilepsies are a diverse group of challenging disorders, and there has been a paradigm shift in our understanding of them. The historically low rate of accurate identification of etiology leads to a limited evidence base to inform practice. There have been several key advances with radiology, where better sequences have allowed the identification of both obvious and more subtle structural changes, such as cortical dysplasias, heterotopiae and acquired injuries. In parallel with the greater diagnostic yield of MRI, has been the up-shift in genomic technology. This initially consisted of micro array comparative genomic hybridization, moving onto limited panels of candidate epilepsy genes, and more recently whole genome sequencing across a trio of family members. Precision diagnosis has opened the avenue for precision therapies.
The aim of this Research Topic is to further elucidate the basis of early childhood epilepsies. This will allow more precise investigation and classification of clinical syndromes, as well as the underlying etiology in children that meet criteria for an epileptic syndrome, and those in whom syndromic classification is not possible. We also aim to inform readers of efficiencies that can be made within investigation in terms of either technological development (e.g genomic techniques), as well as appropriate targeting. This could then lead to the correlation of accurate classification with appropriate therapy, and specifically the identification of more precise therapies. This could greatly benefit groups such as children affected by clinical syndromes (e.g. Ohtahara), as well as those with specific results on investigation (e.g. Lissencephaly) or variants in a novel or known gene such as STXBP1.
This Research Topic welcomes submissions of innovative reports which would enlighten the reader on the causation, investigation and management of early onset epilepsies, including innovative literature reviews, and controlled trials. The manuscripts may focus on both rarer epilepsy syndromes, as well as wider classification groups such as the genetic or focal epilepsies. We especially welcome submissions on the following:
• Genomic analysis of early onset epilepsies;
• MRI and its uses in the diagnosis of early onset epilepsies;
• Inborn errors of metabolism and their biochemical investigation;
• The evidence base for modern therapies for early onset epilepsies;
• Targeted “precise” treatments.
We would like to acknowledge that Dr. Sam Amin, University of Bristol, has acted as a coordinator and has contributed to the preparation of the proposal for this Research Topic.
Early childhood epilepsies are a diverse group of challenging disorders, and there has been a paradigm shift in our understanding of them. The historically low rate of accurate identification of etiology leads to a limited evidence base to inform practice. There have been several key advances with radiology, where better sequences have allowed the identification of both obvious and more subtle structural changes, such as cortical dysplasias, heterotopiae and acquired injuries. In parallel with the greater diagnostic yield of MRI, has been the up-shift in genomic technology. This initially consisted of micro array comparative genomic hybridization, moving onto limited panels of candidate epilepsy genes, and more recently whole genome sequencing across a trio of family members. Precision diagnosis has opened the avenue for precision therapies.
The aim of this Research Topic is to further elucidate the basis of early childhood epilepsies. This will allow more precise investigation and classification of clinical syndromes, as well as the underlying etiology in children that meet criteria for an epileptic syndrome, and those in whom syndromic classification is not possible. We also aim to inform readers of efficiencies that can be made within investigation in terms of either technological development (e.g genomic techniques), as well as appropriate targeting. This could then lead to the correlation of accurate classification with appropriate therapy, and specifically the identification of more precise therapies. This could greatly benefit groups such as children affected by clinical syndromes (e.g. Ohtahara), as well as those with specific results on investigation (e.g. Lissencephaly) or variants in a novel or known gene such as STXBP1.
This Research Topic welcomes submissions of innovative reports which would enlighten the reader on the causation, investigation and management of early onset epilepsies, including innovative literature reviews, and controlled trials. The manuscripts may focus on both rarer epilepsy syndromes, as well as wider classification groups such as the genetic or focal epilepsies. We especially welcome submissions on the following:
• Genomic analysis of early onset epilepsies;
• MRI and its uses in the diagnosis of early onset epilepsies;
• Inborn errors of metabolism and their biochemical investigation;
• The evidence base for modern therapies for early onset epilepsies;
• Targeted “precise” treatments.
We would like to acknowledge that Dr. Sam Amin, University of Bristol, has acted as a coordinator and has contributed to the preparation of the proposal for this Research Topic.
