Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …

Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …

Objective To compare the cost-effectiveness of genetic testing strategies in patients with
epilepsy of unknown etiology. Methods This meta-analysis and cost-effectiveness study …

Abstract Mutations in Munc18‐1/STXBP1 (syntaxin‐binding protein 1) are linked to various
severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous …

Rapid advances in sequencing technology have led to an explosive increase in the number
of genetic variants identified in patients with neurological disease and have also enabled …

Genetic diagnosis of childhood epilepsy is crucial to provide disease-specific treatments.
This report describes the genetic landscape of childhood epilepsy revealed by targeted next …

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are essential for
pacemaking activity and neural signalling,. Drugs inhibiting HCN1 are promising candidates …

Objective This study was undertaken to refine the spectrum of SCN1A epileptic disorders
other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) …

Pharmacoresistant epilepsy presenting during infancy poses both diagnostic and
therapeutic challenges. We aim to identify diagnostic yield and treatment implications of …

Objective Loss‐of‐function variants in SCN1A cause Dravet syndrome, the most common
genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence …