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, …

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral
ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with …

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. …

… Several ASMs show similar chemical structures to P-gp substrates, thus the increased
expression of P-gp and other efflux pumps may limit their entry across the BBB, conferring a …

Posterior reversible encephalopathy syndrome (PRES) is characterised by headache, visual
disorders, seizures, altered mentation, consciousness disturbances and focal neurological …

Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant,
fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain …