The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease. …

Status epilepticus (SE) is one of the most common neurological emergencies in children. To
date, there is no definitive evidence to guide treatment of SE refractory to benzodiazepines. …

Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal
excitability and their dysfunction has been linked to epileptogenesis but few individuals with …

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic
type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. …

Magnetic resonance-guided laser interstitial thermal therapy (MR-gLiTT) is a novel minimally
invasive treatment approach for drug-resistant focal epilepsy and brain tumors. Using …

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of
actin cytoskeleton and intracellular signal transduction, are associated with a rare …

Introduction: To determine the occurrence of neuroradiological abnormalities and to perform
genotype–phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet …

Background Given the rarity of this condition, especially in children, there is a paucity of
large reported paediatric case series of anti-N-methyl-d-aspartate receptor encephalitis. …

Background and Objectives Clinical manifestations in STXBP1 developmental and epileptic
encephalopathy (DEE) vary in severity and outcome, and the genotypic spectrum is diverse. …