Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for the …

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Na v 1.2, have
been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we …

Progressive functional decline in the epilepsies is largely unexplained. We formed the
ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, …

Epilepsy is one of the most common neurological chronic disorders, with an estimated
prevalence of 0. 5 – 1%. Currently, treatment options for epilepsy are predominantly based on the …

Emerging evidence indicates that epileptic encephalopathies are genetically highly
heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further …

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of
STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and …

Objective: SCN8A encodes the sodium channel voltage-gated α8-subunit (Na v 1.6). SCN8A
mutations have recently been associated with epilepsy and neurodevelopmental disorders. …

Background Posterior reversible encephalopathy syndrome (PRES) is a well-recognized
clinico-neuroradiological transient condition. Early recognition is of paramount importance for …

Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium
phosphate deposits in the basal ganglia and other brain regions and has thus far been …

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 …