Drug resistance is estimated to affect about a third of individuals with epilepsy, but its
prevalence differs in relation to the epilepsy syndrome, the cause of epilepsy, and other …

New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …

Importance Genomic advances inform our understanding of epilepsy and can be translated
to patients as precision diagnoses that influence clinical treatment, prognosis, and …

Over the past decade, there has been tremendous progress in understanding brain somatic
mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from …

Over 65 million people suffer from recurrent, unprovoked seizures. The lack of validated
biomarkers specific for myriad forms of epilepsy makes diagnosis challenging. Diagnosis …

In the era of precision medicine, genome sequencing (GS) has become more affordable and
the importance of genomics and multi-omics in clinical care is increasingly being …

Technological advances over the past decade have made precision genetic diagnosis
available to many patients. The findings of a new study demonstrate that genetic diagnosis …

In the last several decades, advances in genetic testing have transformed the diagnostic and
therapeutic approach to pediatric epilepsy. However, the interpretation of these genetic tests …

Objective To characterize the presentation and evaluation of infants with neonatal
encephalopathy (NE) not due to hypoxic-ischemic encephalopathy (non-HIE NE) and to …

Background Most neonatal and infantile-onset epilepsies have presumed genetic
aetiologies, and early genetic diagnoses have the potential to inform clinical management …