Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …

Next generation sequencing is in the process of evolving from a technology used for
research purposes to one which is applied in clinical diagnostics. Recently introduced high …

Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1. 2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Objective We evaluated> 8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

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 …

Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …