Genetic Screening and Diagnosis in Epilepsy?
Genetic Screening and Diagnosis in Epilepsy?
Purpose of review Genetic discovery has been extremely rapid over the last year, with many new discoveries illuminating novel mechanisms and pathways. In particular, the application of whole exome and whole genome sequencing has identified many new genetic causes of the epilepsies. As such methods become increasingly available, it will be critical for practicing neurologists to be acquainted with them. This review surveys some important developments over the last year.
Recent findings The range of tests available to the clinician is wide, and likely soon to be dominated by whole exome and whole genome sequencing. Both whole exome and whole genome sequencing have usually proven to be more powerful than most existing tests. Many new genes have been implicated in the epilepsies, with emerging evidence of the involvement of particular multigene pathways.
Summary For the practicing clinician, it will be important to appreciate progress in the field, and to prepare for the application of novel genetic testing in clinical practice, as genetic data are likely to contribute importantly for many people with epilepsy.
Epilepsy genetics is in transformation. The last year has seen huge strides, mainly resulting from application of new technologies and strategies by several (meta-)consortia. These discoveries are the beginning of mechanistic explanations for the many currently unexplained epilepsies, and a start on the path to personalized medicine. Knowledge is separating the epilepsies into a diverse collection of more or less rare conditions that share the common feature of seizures. Many of these conditions have long been recognized by clinicians who intrinsically spot phenotypic patterns amongst their patients: patterns can now be underpinned by genetics. Overarching mechanisms – disruptions in different genes along a common molecular pathway – are emerging, with the sanguine promise of rational personalized therapies for groups of patients with shared pathophysiology, if not the more diaphanous hope of individualized treatment.
Abstract and Introduction
Abstract
Purpose of review Genetic discovery has been extremely rapid over the last year, with many new discoveries illuminating novel mechanisms and pathways. In particular, the application of whole exome and whole genome sequencing has identified many new genetic causes of the epilepsies. As such methods become increasingly available, it will be critical for practicing neurologists to be acquainted with them. This review surveys some important developments over the last year.
Recent findings The range of tests available to the clinician is wide, and likely soon to be dominated by whole exome and whole genome sequencing. Both whole exome and whole genome sequencing have usually proven to be more powerful than most existing tests. Many new genes have been implicated in the epilepsies, with emerging evidence of the involvement of particular multigene pathways.
Summary For the practicing clinician, it will be important to appreciate progress in the field, and to prepare for the application of novel genetic testing in clinical practice, as genetic data are likely to contribute importantly for many people with epilepsy.
Introduction
Epilepsy genetics is in transformation. The last year has seen huge strides, mainly resulting from application of new technologies and strategies by several (meta-)consortia. These discoveries are the beginning of mechanistic explanations for the many currently unexplained epilepsies, and a start on the path to personalized medicine. Knowledge is separating the epilepsies into a diverse collection of more or less rare conditions that share the common feature of seizures. Many of these conditions have long been recognized by clinicians who intrinsically spot phenotypic patterns amongst their patients: patterns can now be underpinned by genetics. Overarching mechanisms – disruptions in different genes along a common molecular pathway – are emerging, with the sanguine promise of rational personalized therapies for groups of patients with shared pathophysiology, if not the more diaphanous hope of individualized treatment.
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