Importance Although genetic testing is important for bringing precision medicine to children
with epilepsy, it is unclear what genetic testing strategy is best in maximizing diagnostic …

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

Importance Early-life epilepsies are often a consequence of numerous neurodevelopmental
disorders, most of which are proving to have genetic origins. The role of genetic testing in …

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic
heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could …

Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …

Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Epilepsy is a neurological disorder characterized by an increased predisposition for
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Novel technologies and an unprecedented level of international collaboration have resulted
in identification of novel genes for monogenic and complex genetic epilepsies as well as risk …

Objective “How many epilepsy genes are there?” is a frequently asked question. We sought
to (1) provide a curated list of genes that cause monogenic epilepsies, and (2) compare and …