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 …

This review aims to provide an updated perspective of epilepsy genetics and precision
medicine in adult patients, with special focus on developmental and epileptic …

This single-center study aims to determine the time, diagnostic procedure, and cost saving
potential of early exome sequencing in a cohort of 111 individuals with genetically confirmed …

Understanding the genetic architecture of metabolic epilepsies is of paramount importance,
both to current clinical practice and for the identification of further research directions. The …

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay
or intellectual disability. This study delineates the clinical presentation in an extended cohort …

Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD)
remains inconclusive in> 50% of the cases. Research analysis of unsolved cases can …

Die genetische Diagnostik bei an Epilepsie erkrankten Personen ist inzwischen weit
verbreitet und unstrittig sinnhaft geworden. Die Kenntnis einer genetischen Ätiologie kann …

Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies
(DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent …

In 2017, one of us reviewed advances in epilepsy (Manford in J Neurol 264: 1811–1824,
2017). The current paper brings that review up to date and gives a slight change in …

Developmental and epileptic encephalopathies comprise a heterogeneous group of
monogenic neurodevelopmental disorders characterized by early-onset seizures, marked …