Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

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 …

Lennox–Gastaut syndrome (LGS) is a severe epileptic and developmental encephalopathy
that is associated with a high rate of morbidity and mortality. It is characterized by multiple …

Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

Targeted resequencing gene panels are used in the diagnostic setting to identify gene
defects in epilepsy. We performed targeted resequencing using a 30‐genes panel and a 95 …

Identifying the underlying causes of disease requires accurate interpretation of genetic
variants. Current methods ineffectively capture pathogenic non-coding variants in genic …

We previously established the contribution of de novo damaging sequence variants to
Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence …

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset
epilepsies characterized by refractory seizures, developmental delay or regression …

Introduction: Epilepsy is a common neurological disorder characterized by recurrent
unprovoked seizures. More than 500 epilepsy-associated genes have been described in the …

Background The contribution of genetic factors to epilepsy has long been recognized and
has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic …